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Cleft Lip and Palate: Therapy and Prevention
C le ft lip a n d p a la te : th e r a p y a n d p r e v e n tio n S a m u e l P ruzansky, DDS, MS, C h ica g o
It is appropriate to this occasion that we con sider the contributions made by the National Institute o f Dental Research in the treatm ent and prevention of facial clefts. The favorable prognosis in the United States today for a child born with a cleft and the promise of prevention through re search can be ascribed in large measure to support by the Institute. The first grant for multidiscipli nary study o f cleft palate was made in 1959, when the Institute funded the Gatlinburg Conference on Congenital M alformations of the Face and Associ ated Structures.1 Historically, the 1959 date is significant for it established a priority for dental science. It was not until the next year that the National F oundation— M arch o f Dimes sponsored its first conference on congenital malformations. It was not until 1961 that the first meeting of the Teratology Society took place. It was not until 1968 that the M arch of Dimes sponsored the first conference on the Clinical Delineation of Birth Defects to which a number of dental scientists, supported by N ID R, made significant contribu tions. It should also be recognized that N ID R ’s preeminence in the study of craniofacial birth de fects, including clefts, has increased the visibility of the Institute in the scientific community through interaction with a great variety of investigators in the clinical and laboratory sciences. Coincidently, my own involvement with cleft palate, which began in 1949, is just a few months short o f a quarter of a century. Since 1950, I have received support from the Institute in a variety of ways: as a special research fellow, as a former member o f the intramural staff, as a grantee, and as a participant in a variety of conferences and advisory groups. Therefore, the opportunity to review the contributions of N ID R to the treatment and prevention of facial clefts is for me a senti 1 0 4 8 ■ S P E C I A L I S S U E /J A D A , V ol. 8 7 , O c t o b e r 1 9 7 3
mental journey back in time, an occasion for ob jective appraisal o f our present state, and a hope ful look into the future. Clefts of the lip, or palate, or both constitute one of the most common major birth defects. The incidence among live bom whites is probably greater than one in 600 if allowances are made for underreporting2 and the failure to detect congenital palatopharyngeal incompetence in the newborn. Among Am erican blacks the frequency is lower, but among Japanese, Chinese, Eskimos, and American Indians it is substantially higher.3 Cleft palate is an anomaly of many dimensions. Congenital in origin, it affects the child and par ents from the beginning. As a defect it is more than a “hole” in the roof of the mouth. The palate is part of a developmentally and physiologically coupled system that includes the ear, face, oral cavity, pharynx, and larynx. This coupled system is essential for respiration and feeding. If the func tions of respiration and feeding are impaired by anomalies, the results can be life-threatening or detrimental to later development. If oral communi cation is affected, then the child will be handi capped in the most hum an characteristic: under standable and pleasant speech. If the cleft lip is untreated or treated poorly, the facial disfigure ment profoundly disturbs the parents and, in time, the child. Therapy cannot be oversimplified, for the child with a cleft presents an intertwined medi cal, dental, emotional, social, educational, and vocational problem requiring prolonged supervi sion for optimal habilitation. Since 1959, the National Institute of Dental Research has been concerned with the develop ment of a balanced program o f research with two major objectives: to seek improved methods in diagnosis and treatm ent and to extend the benefits
of such research to the greatest number o f patients; and to support investigation into the causes and mechanisms o f clefts with the hope of preventing their occurrence. These objectives were buttressed by training programs designed to provide a broad ly trained cadre o f research personnel in the clini cal and basic sciences. Looking back, we can say that the investment in clinical research has paid off handsomely. The stereotypic orofacial cripple that prevailed 25 years ago is rarely encountered among patients treated in our major medical centers today. This stereotype often had a case history of 30 or more surgical procedures and was characterized by un intelligible and unpleasant speech, a m utilated dentition, incongruent dental arches, and a m id face severely arrested in growth. Research on the origin and mechanisms current ly involves an impressive array o f professional talents deployed on a wide front ranging from molecular and cellular biology to the surveillance of large populations. Despite impressive scientific gains in basic knowledge during the past 25 years, including the breaking of the genetic code and increased knowledge about chromosomes, cell, tissue, and organ culture, cell hybridization, and immunology, the ultim ate goal of prevention con tinues to elude us even though the prospects of success seem brighter than ever. In this research, the National Institute of Dental Research has wisely husbanded its limited resources and sought to interphase selectively with those approaches in developmental biology that seem most promising in achieving the goals o f its targeted programs.
T h e s ta te o f th e a rt 25 y e a rs a g o F or an appreciation of how far we have come, it is wise to look back to where we were. Writing of a history implies a great deal more than the re porting of the passage of events in chronologic order, for these events may be but superficial symptoms of larger factors in the background. The analytic historian seeks to delineate those factors — be they social, economic, political, scientific, or religious — that seem to motivate and shape the course of hum an enterprise. Whyte,4 a British physicist and philosopher of science, in writing about the phenomenon of si multaneous discoveries, quoted Goethe as saying: “. . . the most beautiful discoveries are made not so much by men, as by the period. . . .They m a ture in the course of time, just as fruits fall from the tree at the same tim e in different gardens.”
What has been prepared will be developed. Let us examine some o f the circumstances that favored the inclusion o f facial clefts within the categorical mission o f the National Institute of Dental Research. About 1930, at least four factors together or separately notably influenced changes in the quality of care for patients with cleft pal ates5: — The concept of the whole child. — The study and application of knowledge about growth and development. — The inadequacies arising out of the rigid com partmentalization developing in specialty med ical practice. — The use of the interdisciplinary team to deal with complex medical problems. The 1930 White House Conference developed the first two to a great extent. The second two factors were not developed for at least another decade. The first step in this development came with the passage of the Social Security Act in 1935, which gave impetus to a nationwide interest in the care o f children with clefts. Through part 2 of Title V of this act, C rippled C hildren’s Programs were set up in all the states and territories. Of course, many states had had such programs before 1935, but the pattern in that year was one that made medical care and related services widely available to children with orthopedic difficulties. F or several years, C ooper6 carried on a vigorous crusade in Pennsylvania to include children with cleft palates in the orthopedic group. It was his contention that the C rippled C hildren’s Programs deliberately omitted care to children whose prob lems were located anatomically in the head. Paren thetically, it should be pointed out that in some states, outside of Pennsylvania, the child with cleft lip and palate was getting the best type of care then available through the Crippled Chil dren’s Programs. In 1938, at Lancaster, Cooper established the first recognized cleft palate clinic in this country, and through his activities there he convinced his legislative assembly to pass an act with appropriations making it possible to extend the cleft palate program widely throughout Penn sylvania. Much that influenced the pattern of treatm ent for cleft palate happened in Pennsylvania. There, in the early 1930s, H erbert Koepp-Baker became director of the speech clinic at Pennsylvania State College after he had studied speech problems of adults with cleft palate in Vienna. He developed a collaborative effort with the cleft palate prosthesis activity going on under the direction o f Dr. Cloyd S. H arkins at nearby Osceola Mills. A direct result P ru z a n s k y : C L E F T LIP A N D P A L A T E ■ 1 0 4 9
of their collaboration was the foundation of the Am erican Academy of Cleft Palate Prosthesis at H arrisburg, Pa, on April 4, 1943. This event followed the organization o f a course for the con struction o f speech appliances for children with clefts; it was sponsored by Dr. Linwood Grace, chief o f the dental division of the Departm ent of Health in Pennsylvania. In subsequent years, the academy was reorganized and the basis o f m em bership broadened. After two name changes, the organization is now well established as the A m eri can Cleft Palate Association with its own profes sional journal.
ing of the mechanisms o f action o f the gene might be achieved. In a series o f papers beginning in 1940, Warkany and Nelson14 dem onstrated that congenital m al formations, including cleft palate, appeared in the offspring of rats raised on nutritionally deficient diets. In 1949, W arkany and Schraffenberger15 succeeded in producing cleft lip experimentally in rats by use of roentgen rays. However, it was not until 1951, when Fraser and Fainstat16 discovered that cortisone adminis tered early in pregnancy produced cleft palate in 100% of the embryonic mice in one strain, that a model system was provided for the study of mech anisms that underlie the formation of clefts.
G e n e tic a n d e n v iro n m e n ta l fa c to rs In 1942, Fogh-Andersen7 completed his clinical studies on the inheritance o f cleft lip and palate and found that clefts involving the prim ary palate with or without the secondary palate were geneti cally distinct from those involving the secondary palate alone. The war years, coupled with the paucity o f trained geneticists and lack of access to large series o f patients, inhibited further prog ress for more than a decade. The role of nongenetic factors in the causation of cleft lip and palate was elucidated by experi m ental studies in animals. The science of experi m ental m am m alian teratology is young, and its birth dates from the studies o f the radiation w ork ers of the 1930s and the nutritional experiments of the same decade and of the 1940s.8 W arkany,9 in tracing the beginnings o f experimental teratol ogy, noted that the prevailing scientific opinion 50 years ago was that most congenital m alforma tions, except those produced by mechanical in jury, were genetically determined and inherited. Although experimental teratology was practiced in lower classes o f animals, it was doubted that these findings could be applied to mammals. Between 1933 and 1937, H ale10-12 published a series of papers in which he described anophthalmos, cleft palate, accessory ears, and misplaced kidneys in pigs born o f animals fed on vitam in A-deficient diets. H e showed for the first time that genetic factors could be ruled out as a cause of these de fects. In 1938, Goldschmidt13 introduced the term “pheonocopy” to designate individuals whose phenotype, under the influence of nongenetic agents, becam e like the one normally caused by a specific genotype in the absence of the nongenetic agents. Conceptually, this meant that through the study o f the initiating process, a better understand1 0 5 0 ■ S P E C I A L I S S U E /J A D A , V ol. 8 7 , O c t o b e r 1 9 7 3
C lin ic a l re s e a rc h O n the clinical front, surgeons were under serious indictment. Largely as a result of the cross-sec tional studies by G raber,17 it was concluded that surgery was detrim ental to the development of the midface and, therefore, should be delayed as long as possible. The prescription o f prosthetic appli ances as interim devices or as definitive means of treatment began to flourish as the dominant form of treatment. Surgeons, too, admitted their failures. Although significant research was being con ducted in the speech and hearing sciences, it was largely isolated, and the results were rarely com municated to other disciplines. At the clinical level, speech pathologists, as well as dentists and surgeons, contributed to the care of the same patient, but at separate and isolated points in the habilitative process. Inadvertently, they often worked at cross-purpose to each other. In retrospect, two major errors in thinking char acterized the clinical scene 25 years ago. First, there was an unfortunate tendency to lump all clefts together. Even to the present day, this lum p ing has been the greatest drawback to clinical, genetic, and epidemiologic research.18 Second, surgeons were handicapped by their inability to study the pathologic anatomy of clefts. The plastic surgeon in training has scant opportunity to learn about the natural history o f facial clefts, such as the changes incident to growth or surgery. In deal ing with the rarer types o f clefts, such as bilateral clefts, even the most experienced surgeon will accumulate but a limited series in a lifetime of practice. Thus, the training of a plastic surgeon was and remains highly empirical. He learns his pathologic anatomy in the operating room. The contrast between the development of sur
gery for congenital defects o f the heart as opposed to that for the palate is distinct. H eart surgery evolved out o f step-by-step scientific advances involving study of m orbid pathosis, pathophysi ologic studies in the living through cardiac cathe terization and cineradiology, experimental studies in animals, and the development of the heart-lung machine. In contrast, surgical techniques and skills for the repair o f facial clefts advanced ahead o f the acumen in differential diagnosis and in the understanding o f the pathophysiology. M usgrave,19 a plastic surgeon, pointed out that before World War II, well-trained plastic surgeons were few. The same doctor who delivered babies also set bones, treated infections, did appendec tomies and herniorrhaphies, occasionally took out a gallbladder, and when the occasion demanded, re paired a cleft lip and cleft palate. H e did the sur gery as best he could, by looking it up in a text book and proceeding cookbook fashion. Twentyfive years ago, m ultidisciplinary teams with their varied diagnostic tools were few and far between. In 1948, the year the National Institute o f Den tal Research was founded, the program planning section of the Division o f Health Services of the Social Security Adm inistration (pre-HEW ) pre pared “Suggested Principles for a Training Pro gram in C are o f Children with Cleft Palate.” The immediate result of this plan was the funding of the Cleft Palate Training Program at the Univer sity of Illinois.20 The further development o f the center at Illinois, as well as other centers, came to depend on subsequent support from the NIDR. The longitudinal growth studies initiated at Illinois in 1949 now constitute the largest collection of casts, cephalometric radiographs, and other re lated data on children with clefts and other cranio facial anomalies. Now, for the first time, we have the opportunity to see things from their beginnings. It is possible to study variation evident in the initial state, to plan appropriate therapy, and to prognosticate the outcome. The plastic surgeon in training has ac cess to material that will provide him with an appreciation for the variety o f clefts, and their natural history. Serial follow-up studies over the long term (some patients now are adults) have enabled us to analyze the effects of specific treat ments and the interactions with individual growth patterns. Although the mission o f the Institute does not perm it direct support of patient care, the by product o f the training programs and the clinical research that it sponsored can be measured in tangible terms of improved patient care with su
perior cosmetic and functional results. This has been achieved with substantially fewer operations and shortened hospital stays; it has eliminated the need for repeated prosthetic speech appliances and reduced the frequency and severity of associ ated malocclusion. N ot only has the outlook for a newborn with a facial cleft been substantially im proved but the cost of such treatm ent in dollars, time, and heartache has been reduced. The return on the invested tax dollar in the amelioration o f the condition has been most rewarding.21
W h e r e a r e w e in 1 9 7 3 ? If I have spent an inordinate amount of time on the past, it is only to provide a background against which to appraise the N ID R reports on the present state of the art which have been well documented elsewhere.22 T he A pril 1973 issue o f the Cleft Palate Jour nal18 classified clinical research in six areas18: etiology and pathogenic aspects, anatomical and physiological aspects, pediatric and otologic as pects, orofacial growth and dental aspects, surgical aspects, and speech and psychosocial aspects. T he voluminous and wide-ranging bibliography of scientific works, many o f which were sponsored by N ID R grants, testifies to the effect of the In stitute’s contribution. Within the limits of this p re sentation, comment will be confined to only one aspect of the report — prevention. There are many avenues o f investigation that can lead to prevention. Historically, success has been achieved through laboratory research, or clinical observation, or by a combination of both. Prevention may be directed toward the etiologic factor as in the elimination of a teratogen, such as thalidomide, or in the vaccination against the rubella virus. In both instances, identification o f the causative agent was the result o f careful clini cal observation. Identification o f the heterozygote carrier for Tay-Sachs disease provides a basis for genetic counseling and thereby prevention. Some times it is possible to deal with the mechanism of the disorder as in some of the inborn errors o f metabolism. This will involve dietary control, as in phenylketonuria and the avoidance o f certain drugs in glucose 6-phosphate dehydrogenase de ficiency. With respect to clefts, experimental and clinical studies on the origin point to several subgroups. The largest num ber of clefts is probably the result o f a m ultifactorial threshold system. That is, clefts o f the lip or palate may result from the acP r u z a n s k y : C L E F T LIP A N D P A L A T E ■ 10 5 1
cum ulated adverse effects o f several genetic and environmental factors finally causing a breakdown in normal development. C urrent reasoning suggests that the ability to change any one of these factors may shift the development o f the individual to the normal side o f the threshold.22 In other instances, environmental factors may be the dominant etiologic agent. Recent clinical studies and experimental evidence from animal studies implicate antiepileptic drugs as a cause of facial clefts.22 In consideration of the large num ber of women o f child-bearing age on such medi cation, the need for prospective and metabolic studies is imperative. Although it is not practical to cease prescription of antiepileptic drugs, it may be possible to counteract the teratogenic effect while preserving the therapeutic action. This may entail modification of the drug or comedication with another agent that antagonizes the teratogenic effect. In a fewer num ber o f instances, m utant genes and chromosomal defects account for clefts oc curring in association with other malformations. M ore than 100 syndromes have been identified in which clefts of the lip, or palate, or both are in cluded.23 Recognition and identification of such syndromes are essential for genetic counseling. F or example, the concurrence o f lip pits and clefts constitute a dominantly inherited condition. R e currence risks for such entities are much higher than for those in the multifactorial group. Genetic counseling for such high-risk families constitutes a form o f prevention. ■ Congenital palatopharyngeal incompetence: The im portance of postnatal environmental factors in unmasking inconspicuous features of development is now recognized. The inborn error of metabolism glucose 6-phosphate dehydrogenase deficiency is a classic example in which the inherited trait be comes evident on exposure to fava beans or certain drugs. A nother interesting example in which clinical research may lead to prevention relates to studies on congenital palatopharyngeal incompetence, a microform of cleft palate. Simply stated, this is a condition in which the patient has hypernasal speech in the absence o f an overt cleft palate. About 25 % of these cases are unmasked by adenoidectomy since removal o f the adenoid mass results in incomplete palatopharyngeal valving. About 80% of the patients with this condition have one or m ore of these visible or palpable stigmas: bifid uvula, short soft palate, zona pellucida, and submucous cleft palate. By instructing physicians 1 0 5 2 ■ S P E C IA L IS S U E /JA D A , V ol. 8 7 , O c t o b e r 1 9 7 3
to examine patients for these stigmas before they perform adenoidectomies, we may discover the conditions before their “unmasking.” ■ Reduced birth rate and population growth: The sharp decline in birth rate reported by the National Center for Health Statistics has resulted in w hat is probably an equivalent decline in the num ber of children born with clefts. This numerical decline may be a transient phenomenon in view of the large num ber of young girls who will enter the child-bearing years in the near future. T here are, for example, 1.1 million women who are now 39 years old, but 2.1 million who are 13. Even if the 13-year-olds merely replace themselves as they go through the child-bearing years, they will be producing twice as many babies as the 39-yearolds did. The population will continue to increase, as well as the anticipated number o f babies with clefts. ■ A critical look at the present: Although it may be comforting to our sense of achievement to look back and inventory the success of the past 25 years as measured by improved patient care and expanded research directed toward prevention, a critical look at the current scene is also warranted. There has been an excessive proliferation of teams, particularly in some large urban areas. Most are inadequately staffed and poorly equipped and meet infrequently with an inadequate case flow. Despite the avowed commitment to com pre hensive patient care, most cleft palate team s are dom inated by plastic surgeons, speech and hearing pathologists, and dental specialists. Pediatricians, otologists, and other medical specialists are poorly represented on cleft palate team rosters and in the membership of the American Cleft Palate Associ ation. Despite the frequency of feeding problems in children with clefts and the special requirements of postoperative care, members of the nursing profession are seldom included in the team . Few cleft palate teams are prepared to provide genetic counseling. A n opinion survey24 conducted by two graduate students revealed the relative roles o f nurses, pediatricians, and otologists on cleft palate teams. Although the response varied somewhat with the respondent’s discipline, nurses and pediatricians clearly were not regarded as essential to the care of children with clefts (Table). The ubiquity of middle ear disease18 and the relative high frequency of cardiac,25 ophthalm olog ic,26 and other disorders in children with clefts suggest the need for more comprehensive surveil-
T a b le ■ P ercen tag e of c left p a la te team coordinators
w ho regard nurses, p ed ia tric ia n s , or otologists as e x pen d ab le te am p ersonn el.
Nurses Pediatricians Otologists
All coordinators (n= 32) 81.2 40.6 12.5
% Coordinators Plastic Speech surgeons pathologists Otologists (n = 17) (n= 10) (n=5) 90.0 60.0 82.3 30.0 40.0 58.8 0.0 0.0 11.7
lance of patients with clefts than is currently being provided. Identification o f syndromes in children with clefts is directly proportional to the sophisti cation of the personnel in contact with the patients. For these reasons, the need for greater pediatric involvement in major cleft palate centers is urgent. There has been an unbridled enthusiasm for new procedures, such as presurgical maxillary orthopedics and prim ary bone grafting, without recognition of the need for documentation to prove the efficacy and benefits claimed. A uniform data base must be developed to perm it comparison of results between different centers. The explosive surge of research in develop mental biology demands that the N ID R continue to support training programs to provide a nuclear staff o f scientists capable o f moving conceptually and operationally into those newly developed areas that show promise o f contributing to the pre vention of craniofacial birth defects.
T h e fu tu re The prospects for im proved comprehensive care for patients with facial clefts will depend on con tinued and selective support of training programs that include additional pediatricians, otologists, and geneticists. So far, we have accepted the team approach as the most effective mechanism for health care de livery in cleft lip and palate. I now wish to suggest another phase in the team approach and that is the team of institutions. No single institution pos sesses all o f the professional strengths and re sources to meet the challenge. Therefore, institu tions must now form cooperative teams for patient care, teaching, and research. I propose that institutions within a given geo graphic area pool personnel and facilities to pro vide optimal care, better record keeping, and im proved research. In dealing with relatively rare entities, it is critical that a consortium model be
used to ensure the widest catch-basin of referrals. Economies in developing standardized records that are valid and reproducible may be anticipated. Central data storage facilities for retrieval and analysis of records will become possible. The need for cooperative data exchange will become even more critical as cleft palate teams diversify to include work with a wider range of craniofacial anomalies. Research on relatively rare syndromes is in a different category from much of the individual entrepreneurial investigations to which we have been accustomed. The need for sufficient data requires a new organizational scheme involving regional and nationwide net works o f collaborating institutions. This will allow for larger sampling than any one institution could possibly accrue. It will also perm it comparison of results between different regions. The impact of such interdisciplinary units on the curriculums of health science centers should not be overlooked. Such units provide an antidote to excessive specialization and departm entaliza tion. They serve as an educational link between disciplines joined together in a common effort in solving problems that are refractory to the unidisciplinary approach. This reorganization, which can only be made possible through federal support, will accelerate the logical expansion of cleft palate programs to include other craniofacial anomalies o f congenital, developmental, or acquired origin. Children with m alform ation syndromes o f the face, other than clefts, are at a stage similar to the one that existed for children with clefts 25 years ago. Patients who have had serious facial traum a as a result o f war injuries or automobile accidents stand to benefit from the resources of the cleft palate team. Simi larly, those who have undergone ablative surgery in the treatm ent o f cancer are beginning to gravi tate to such centers for optimal care. A reduction in the num ber o f independent cleft palate team s and a consolidation o f the most effec tive units into consortia are essential to meet the challenge posed by the emerging changes in pat terns o f patient ascertainment, referral, and agency control. The dominance o f crippled children’s programs that provided for the integrated care and supervision of the greatest num ber of children is being diluted by two factors: the growth of the other third party care agencies, circumventing the need for referral to state agencies; and the in creased num ber o f plastic surgeons and health science centers competing for referrals that tradi tionally were attracted by the dom inant urban university-based health center. The danger in this P r u z a n s k y : C L E F T LIP A N D P A L A T E ■ 1 0 5 3
decentralization is that data collection and peer review will disappear. Also, no one unit will be able to accumulate the critical mass of experience that makes for optimal patient care — as demon strated in heart surgery. Although it may be in the patient’s best interest to provide for most of his treatm ent at the local level, the need for a central facility to provide diagnosis and follow-up and for the development o f an appropriate data base becomes more critical than ever. Where the concern is with the relatively rare clinical entity, the dominance of the central facility must be retained.
C o n c lu s io n Looking back once more, it can be concluded that the money spent on cleft palate to date has been wisely invested. There are few serious congenital defects for which the prognosis for a socially and vocationally useful life is as good as it is for the child born with a cleft lip and palate. The task is to improve on this base and to extend the benefits o f our knowledge to the greater number. The search for preventive measures must be intensified, making use of various approaches that include the laboratory and clinical sciences, genetics, and epidemiology. Finally, I should like to conclude on a personal note. It seems that nearly every paper I have pub lished carried a footnote acknowledging support from the NID R. It seems appropriate to restate this acknowledgement and to add something else. I feel like the son attending the silver anniversary o f his parents’ marriage. For I realize if that event had not taken place and if they had not sent me to college, I would not be speaking to you from this platform today. So, to my parents and to N ID R, thank you very much.
Dr. Pruzansky is d ire c to r of th e c e n te r for craniofacial anom alies and professor of orthodontics in the d e p a rt m ent of ped iatrics, A braham Lincoln School of M e d ic in e, U niversity of Illinois at th e M e d ic a l C enter, C hicago, 60680. 1. P ruzansky, S., ed. C ongenital anom alies of th e face and associated structures. S p rin g field , III, C h arles C Thom as, 1961. 2. M eskin , L.H., and Pruzansky, S. V alid ity of the birth c e rtific a te in the epid em io lo g ic assessm ent of facial clefts. J D ent Res 46:1456 N ov-D ee 1967. 3. Fraser, F.C. The genetics of cleft lip and cleft p a l ate. Am J Hum G enet 22:336 M ay 1970. 1 0 5 4 ■ S P E C I A L I S S U E /J A D A , V ol. 8 7 , O c t o b e r 1 9 7 3
4. W hyte, L.L. S im ultaneous discovery. H a rp e r’s M ag 2 0 0 :2 3 Feb 1950. 5. Kobes, H .R ., and Pruzansky, S. The cleft p alate team — a historical review . Am J P ublic H ealth 50:200 Feb 1960. 6 . C ooper, H .K . C rip p le d children? Am J O rthod Oral Surg 28:35 Jan 1942. 7. Fogh -A ndersen, P. In heritance of harelip and cleft pa la te ; contribution to th e e lu cidatio n of the etiology of th e congenital c le fts of the face. C openhagen, A. Busck, 1942. 8 . K alter, H. T e ra to lo g y of the central nervous system: induced and spontaneous m alform ation of laboratory, a g ric u ltu ra l, and dom estic anim als. C hicago, U niversity of C h icag o Press, 1968. 9. W arkany, J. C ongenital m alform ations. N otes and com m ents. C h ic a g o , Y e a r B ook M edical P ublishers, 1971, p 29. 10. H ale, F. Pigs born w ithout eyeballs. J H ered 24:105 M arch 1933. 11. H a le , F. R elation of vitam in A to anophthalm os in pigs. Am J O phth 18:1 0 8 7 D ec 1935. 12. H a le , F. R elatio n of m aternal vitam in A deficiency to m icroph thalm ia in pigs. T e x S tate J M ed 33:228 July 1937. 13. G oldschm idt, R. Physiological genetics. N ew York, M c G ra w -H ill Book C o., 1938. 14. W arkany, J., and N elson, R.C. A p p e a ra n c e of s k e le tal ab n o rm alities in offspring of rats reared on a d eficien t d iet. S cie n c e 9 2 :3 8 3 O ct 25, 1940. 15. W arkany, J., and S ch raffenberger, E. C ongenital m alform ations induced in rats by roentgen rays. Am J R oentgenol Rad T h e r 57:455 A pril 1947. 16. Fraser, F.C., and Fainstat, T.D . The production of c ongen ital defects in offspring of pregnant m ice treated w ith cortisone: progress report. Pediatrics 8:527 O ct 1951. 17. G raber, T .M . C ran io facial m orphology in cleft p a l a te and cleft lip deform ities. Surg Gynecol O bstet 88:359 M arch 1949. 18. S p riestersbach, D .C ., and others. C linical research in cleft lip and cleft palate: the state of the art. C le ft P al a te J 10:113 A pril 1973. 19. M usgrave, R .H . P residential address: 1969. C left P ala te J 6:361 O ct 1969. 20. Pruzansky, S. Foundations of the C left P alate C e n te r and Train in g Program at th e U niversity of Illinois. A n g le O rthod 27:69 April 1957. 21. C lifford, E.; C ro cker, E.C.; and Pope, B.A. Psycho lo gical findings in th e adulthood of 98 cleft lip -p alate child re n . Plast R econstr Surg 50:234 Sept 1972. 22. B urdi, A., and others. E tiology and p athogenesis of c ongen ital c le ft lip and c left palate, an N ID R state of the art report. Te ra to lo g y 6:255 Dec 1972. 23. G orlin, R.J.; C e rv e n k a , J.; and Pruzansky, S. Facial c lefting and its syndrom es. Birth Defects: O rig A rt S eries 7:3, 1971. 24. N iem an, G., and G arstecki, D. Personnel com m u ni cation. 25. Shah, C .V .; Pruzansky, S.; and H arris, W .S. C ardiac m alform ations with fa c ia l clefts: with observations on the P ie rre Robin syndrom e. Am J Dis C hild 119:238 M arch 1970. 26. Sm ith, J.L., and S tow e, F.R. The P ierre Robin syn drom e (glossoptosis, m icrogn athic, cleft palate). A review of 39 cases w ith em phasis on associated ocu lar lesions. P ed iatrics 2 7:128 Jan 1961.
It is appropriate to this occasion that we con sider the contributions made by the National Institute o f Dental Research in the treatm ent and prevention of facial clefts. The favorable prognosis in the United States today for a child born with a cleft and the promise of prevention through re search can be ascribed in large measure to support by the Institute. The first grant for multidiscipli nary study o f cleft palate was made in 1959, when the Institute funded the Gatlinburg Conference on Congenital M alformations of the Face and Associ ated Structures.1 Historically, the 1959 date is significant for it established a priority for dental science. It was not until the next year that the National F oundation— M arch o f Dimes sponsored its first conference on congenital malformations. It was not until 1961 that the first meeting of the Teratology Society took place. It was not until 1968 that the M arch of Dimes sponsored the first conference on the Clinical Delineation of Birth Defects to which a number of dental scientists, supported by N ID R, made significant contribu tions. It should also be recognized that N ID R ’s preeminence in the study of craniofacial birth de fects, including clefts, has increased the visibility of the Institute in the scientific community through interaction with a great variety of investigators in the clinical and laboratory sciences. Coincidently, my own involvement with cleft palate, which began in 1949, is just a few months short o f a quarter of a century. Since 1950, I have received support from the Institute in a variety of ways: as a special research fellow, as a former member o f the intramural staff, as a grantee, and as a participant in a variety of conferences and advisory groups. Therefore, the opportunity to review the contributions of N ID R to the treatment and prevention of facial clefts is for me a senti 1 0 4 8 ■ S P E C I A L I S S U E /J A D A , V ol. 8 7 , O c t o b e r 1 9 7 3
mental journey back in time, an occasion for ob jective appraisal o f our present state, and a hope ful look into the future. Clefts of the lip, or palate, or both constitute one of the most common major birth defects. The incidence among live bom whites is probably greater than one in 600 if allowances are made for underreporting2 and the failure to detect congenital palatopharyngeal incompetence in the newborn. Among Am erican blacks the frequency is lower, but among Japanese, Chinese, Eskimos, and American Indians it is substantially higher.3 Cleft palate is an anomaly of many dimensions. Congenital in origin, it affects the child and par ents from the beginning. As a defect it is more than a “hole” in the roof of the mouth. The palate is part of a developmentally and physiologically coupled system that includes the ear, face, oral cavity, pharynx, and larynx. This coupled system is essential for respiration and feeding. If the func tions of respiration and feeding are impaired by anomalies, the results can be life-threatening or detrimental to later development. If oral communi cation is affected, then the child will be handi capped in the most hum an characteristic: under standable and pleasant speech. If the cleft lip is untreated or treated poorly, the facial disfigure ment profoundly disturbs the parents and, in time, the child. Therapy cannot be oversimplified, for the child with a cleft presents an intertwined medi cal, dental, emotional, social, educational, and vocational problem requiring prolonged supervi sion for optimal habilitation. Since 1959, the National Institute of Dental Research has been concerned with the develop ment of a balanced program o f research with two major objectives: to seek improved methods in diagnosis and treatm ent and to extend the benefits
of such research to the greatest number o f patients; and to support investigation into the causes and mechanisms o f clefts with the hope of preventing their occurrence. These objectives were buttressed by training programs designed to provide a broad ly trained cadre o f research personnel in the clini cal and basic sciences. Looking back, we can say that the investment in clinical research has paid off handsomely. The stereotypic orofacial cripple that prevailed 25 years ago is rarely encountered among patients treated in our major medical centers today. This stereotype often had a case history of 30 or more surgical procedures and was characterized by un intelligible and unpleasant speech, a m utilated dentition, incongruent dental arches, and a m id face severely arrested in growth. Research on the origin and mechanisms current ly involves an impressive array o f professional talents deployed on a wide front ranging from molecular and cellular biology to the surveillance of large populations. Despite impressive scientific gains in basic knowledge during the past 25 years, including the breaking of the genetic code and increased knowledge about chromosomes, cell, tissue, and organ culture, cell hybridization, and immunology, the ultim ate goal of prevention con tinues to elude us even though the prospects of success seem brighter than ever. In this research, the National Institute of Dental Research has wisely husbanded its limited resources and sought to interphase selectively with those approaches in developmental biology that seem most promising in achieving the goals o f its targeted programs.
T h e s ta te o f th e a rt 25 y e a rs a g o F or an appreciation of how far we have come, it is wise to look back to where we were. Writing of a history implies a great deal more than the re porting of the passage of events in chronologic order, for these events may be but superficial symptoms of larger factors in the background. The analytic historian seeks to delineate those factors — be they social, economic, political, scientific, or religious — that seem to motivate and shape the course of hum an enterprise. Whyte,4 a British physicist and philosopher of science, in writing about the phenomenon of si multaneous discoveries, quoted Goethe as saying: “. . . the most beautiful discoveries are made not so much by men, as by the period. . . .They m a ture in the course of time, just as fruits fall from the tree at the same tim e in different gardens.”
What has been prepared will be developed. Let us examine some o f the circumstances that favored the inclusion o f facial clefts within the categorical mission o f the National Institute of Dental Research. About 1930, at least four factors together or separately notably influenced changes in the quality of care for patients with cleft pal ates5: — The concept of the whole child. — The study and application of knowledge about growth and development. — The inadequacies arising out of the rigid com partmentalization developing in specialty med ical practice. — The use of the interdisciplinary team to deal with complex medical problems. The 1930 White House Conference developed the first two to a great extent. The second two factors were not developed for at least another decade. The first step in this development came with the passage of the Social Security Act in 1935, which gave impetus to a nationwide interest in the care o f children with clefts. Through part 2 of Title V of this act, C rippled C hildren’s Programs were set up in all the states and territories. Of course, many states had had such programs before 1935, but the pattern in that year was one that made medical care and related services widely available to children with orthopedic difficulties. F or several years, C ooper6 carried on a vigorous crusade in Pennsylvania to include children with cleft palates in the orthopedic group. It was his contention that the C rippled C hildren’s Programs deliberately omitted care to children whose prob lems were located anatomically in the head. Paren thetically, it should be pointed out that in some states, outside of Pennsylvania, the child with cleft lip and palate was getting the best type of care then available through the Crippled Chil dren’s Programs. In 1938, at Lancaster, Cooper established the first recognized cleft palate clinic in this country, and through his activities there he convinced his legislative assembly to pass an act with appropriations making it possible to extend the cleft palate program widely throughout Penn sylvania. Much that influenced the pattern of treatm ent for cleft palate happened in Pennsylvania. There, in the early 1930s, H erbert Koepp-Baker became director of the speech clinic at Pennsylvania State College after he had studied speech problems of adults with cleft palate in Vienna. He developed a collaborative effort with the cleft palate prosthesis activity going on under the direction o f Dr. Cloyd S. H arkins at nearby Osceola Mills. A direct result P ru z a n s k y : C L E F T LIP A N D P A L A T E ■ 1 0 4 9
of their collaboration was the foundation of the Am erican Academy of Cleft Palate Prosthesis at H arrisburg, Pa, on April 4, 1943. This event followed the organization o f a course for the con struction o f speech appliances for children with clefts; it was sponsored by Dr. Linwood Grace, chief o f the dental division of the Departm ent of Health in Pennsylvania. In subsequent years, the academy was reorganized and the basis o f m em bership broadened. After two name changes, the organization is now well established as the A m eri can Cleft Palate Association with its own profes sional journal.
ing of the mechanisms o f action o f the gene might be achieved. In a series o f papers beginning in 1940, Warkany and Nelson14 dem onstrated that congenital m al formations, including cleft palate, appeared in the offspring of rats raised on nutritionally deficient diets. In 1949, W arkany and Schraffenberger15 succeeded in producing cleft lip experimentally in rats by use of roentgen rays. However, it was not until 1951, when Fraser and Fainstat16 discovered that cortisone adminis tered early in pregnancy produced cleft palate in 100% of the embryonic mice in one strain, that a model system was provided for the study of mech anisms that underlie the formation of clefts.
G e n e tic a n d e n v iro n m e n ta l fa c to rs In 1942, Fogh-Andersen7 completed his clinical studies on the inheritance o f cleft lip and palate and found that clefts involving the prim ary palate with or without the secondary palate were geneti cally distinct from those involving the secondary palate alone. The war years, coupled with the paucity o f trained geneticists and lack of access to large series o f patients, inhibited further prog ress for more than a decade. The role of nongenetic factors in the causation of cleft lip and palate was elucidated by experi m ental studies in animals. The science of experi m ental m am m alian teratology is young, and its birth dates from the studies o f the radiation w ork ers of the 1930s and the nutritional experiments of the same decade and of the 1940s.8 W arkany,9 in tracing the beginnings o f experimental teratol ogy, noted that the prevailing scientific opinion 50 years ago was that most congenital m alforma tions, except those produced by mechanical in jury, were genetically determined and inherited. Although experimental teratology was practiced in lower classes o f animals, it was doubted that these findings could be applied to mammals. Between 1933 and 1937, H ale10-12 published a series of papers in which he described anophthalmos, cleft palate, accessory ears, and misplaced kidneys in pigs born o f animals fed on vitam in A-deficient diets. H e showed for the first time that genetic factors could be ruled out as a cause of these de fects. In 1938, Goldschmidt13 introduced the term “pheonocopy” to designate individuals whose phenotype, under the influence of nongenetic agents, becam e like the one normally caused by a specific genotype in the absence of the nongenetic agents. Conceptually, this meant that through the study o f the initiating process, a better understand1 0 5 0 ■ S P E C I A L I S S U E /J A D A , V ol. 8 7 , O c t o b e r 1 9 7 3
C lin ic a l re s e a rc h O n the clinical front, surgeons were under serious indictment. Largely as a result of the cross-sec tional studies by G raber,17 it was concluded that surgery was detrim ental to the development of the midface and, therefore, should be delayed as long as possible. The prescription o f prosthetic appli ances as interim devices or as definitive means of treatment began to flourish as the dominant form of treatment. Surgeons, too, admitted their failures. Although significant research was being con ducted in the speech and hearing sciences, it was largely isolated, and the results were rarely com municated to other disciplines. At the clinical level, speech pathologists, as well as dentists and surgeons, contributed to the care of the same patient, but at separate and isolated points in the habilitative process. Inadvertently, they often worked at cross-purpose to each other. In retrospect, two major errors in thinking char acterized the clinical scene 25 years ago. First, there was an unfortunate tendency to lump all clefts together. Even to the present day, this lum p ing has been the greatest drawback to clinical, genetic, and epidemiologic research.18 Second, surgeons were handicapped by their inability to study the pathologic anatomy of clefts. The plastic surgeon in training has scant opportunity to learn about the natural history o f facial clefts, such as the changes incident to growth or surgery. In deal ing with the rarer types o f clefts, such as bilateral clefts, even the most experienced surgeon will accumulate but a limited series in a lifetime of practice. Thus, the training of a plastic surgeon was and remains highly empirical. He learns his pathologic anatomy in the operating room. The contrast between the development of sur
gery for congenital defects o f the heart as opposed to that for the palate is distinct. H eart surgery evolved out o f step-by-step scientific advances involving study of m orbid pathosis, pathophysi ologic studies in the living through cardiac cathe terization and cineradiology, experimental studies in animals, and the development of the heart-lung machine. In contrast, surgical techniques and skills for the repair o f facial clefts advanced ahead o f the acumen in differential diagnosis and in the understanding o f the pathophysiology. M usgrave,19 a plastic surgeon, pointed out that before World War II, well-trained plastic surgeons were few. The same doctor who delivered babies also set bones, treated infections, did appendec tomies and herniorrhaphies, occasionally took out a gallbladder, and when the occasion demanded, re paired a cleft lip and cleft palate. H e did the sur gery as best he could, by looking it up in a text book and proceeding cookbook fashion. Twentyfive years ago, m ultidisciplinary teams with their varied diagnostic tools were few and far between. In 1948, the year the National Institute o f Den tal Research was founded, the program planning section of the Division o f Health Services of the Social Security Adm inistration (pre-HEW ) pre pared “Suggested Principles for a Training Pro gram in C are o f Children with Cleft Palate.” The immediate result of this plan was the funding of the Cleft Palate Training Program at the Univer sity of Illinois.20 The further development o f the center at Illinois, as well as other centers, came to depend on subsequent support from the NIDR. The longitudinal growth studies initiated at Illinois in 1949 now constitute the largest collection of casts, cephalometric radiographs, and other re lated data on children with clefts and other cranio facial anomalies. Now, for the first time, we have the opportunity to see things from their beginnings. It is possible to study variation evident in the initial state, to plan appropriate therapy, and to prognosticate the outcome. The plastic surgeon in training has ac cess to material that will provide him with an appreciation for the variety o f clefts, and their natural history. Serial follow-up studies over the long term (some patients now are adults) have enabled us to analyze the effects of specific treat ments and the interactions with individual growth patterns. Although the mission o f the Institute does not perm it direct support of patient care, the by product o f the training programs and the clinical research that it sponsored can be measured in tangible terms of improved patient care with su
perior cosmetic and functional results. This has been achieved with substantially fewer operations and shortened hospital stays; it has eliminated the need for repeated prosthetic speech appliances and reduced the frequency and severity of associ ated malocclusion. N ot only has the outlook for a newborn with a facial cleft been substantially im proved but the cost of such treatm ent in dollars, time, and heartache has been reduced. The return on the invested tax dollar in the amelioration o f the condition has been most rewarding.21
W h e r e a r e w e in 1 9 7 3 ? If I have spent an inordinate amount of time on the past, it is only to provide a background against which to appraise the N ID R reports on the present state of the art which have been well documented elsewhere.22 T he A pril 1973 issue o f the Cleft Palate Jour nal18 classified clinical research in six areas18: etiology and pathogenic aspects, anatomical and physiological aspects, pediatric and otologic as pects, orofacial growth and dental aspects, surgical aspects, and speech and psychosocial aspects. T he voluminous and wide-ranging bibliography of scientific works, many o f which were sponsored by N ID R grants, testifies to the effect of the In stitute’s contribution. Within the limits of this p re sentation, comment will be confined to only one aspect of the report — prevention. There are many avenues o f investigation that can lead to prevention. Historically, success has been achieved through laboratory research, or clinical observation, or by a combination of both. Prevention may be directed toward the etiologic factor as in the elimination of a teratogen, such as thalidomide, or in the vaccination against the rubella virus. In both instances, identification o f the causative agent was the result o f careful clini cal observation. Identification o f the heterozygote carrier for Tay-Sachs disease provides a basis for genetic counseling and thereby prevention. Some times it is possible to deal with the mechanism of the disorder as in some of the inborn errors o f metabolism. This will involve dietary control, as in phenylketonuria and the avoidance o f certain drugs in glucose 6-phosphate dehydrogenase de ficiency. With respect to clefts, experimental and clinical studies on the origin point to several subgroups. The largest num ber of clefts is probably the result o f a m ultifactorial threshold system. That is, clefts o f the lip or palate may result from the acP r u z a n s k y : C L E F T LIP A N D P A L A T E ■ 10 5 1
cum ulated adverse effects o f several genetic and environmental factors finally causing a breakdown in normal development. C urrent reasoning suggests that the ability to change any one of these factors may shift the development o f the individual to the normal side o f the threshold.22 In other instances, environmental factors may be the dominant etiologic agent. Recent clinical studies and experimental evidence from animal studies implicate antiepileptic drugs as a cause of facial clefts.22 In consideration of the large num ber of women o f child-bearing age on such medi cation, the need for prospective and metabolic studies is imperative. Although it is not practical to cease prescription of antiepileptic drugs, it may be possible to counteract the teratogenic effect while preserving the therapeutic action. This may entail modification of the drug or comedication with another agent that antagonizes the teratogenic effect. In a fewer num ber o f instances, m utant genes and chromosomal defects account for clefts oc curring in association with other malformations. M ore than 100 syndromes have been identified in which clefts of the lip, or palate, or both are in cluded.23 Recognition and identification of such syndromes are essential for genetic counseling. F or example, the concurrence o f lip pits and clefts constitute a dominantly inherited condition. R e currence risks for such entities are much higher than for those in the multifactorial group. Genetic counseling for such high-risk families constitutes a form o f prevention. ■ Congenital palatopharyngeal incompetence: The im portance of postnatal environmental factors in unmasking inconspicuous features of development is now recognized. The inborn error of metabolism glucose 6-phosphate dehydrogenase deficiency is a classic example in which the inherited trait be comes evident on exposure to fava beans or certain drugs. A nother interesting example in which clinical research may lead to prevention relates to studies on congenital palatopharyngeal incompetence, a microform of cleft palate. Simply stated, this is a condition in which the patient has hypernasal speech in the absence o f an overt cleft palate. About 25 % of these cases are unmasked by adenoidectomy since removal o f the adenoid mass results in incomplete palatopharyngeal valving. About 80% of the patients with this condition have one or m ore of these visible or palpable stigmas: bifid uvula, short soft palate, zona pellucida, and submucous cleft palate. By instructing physicians 1 0 5 2 ■ S P E C IA L IS S U E /JA D A , V ol. 8 7 , O c t o b e r 1 9 7 3
to examine patients for these stigmas before they perform adenoidectomies, we may discover the conditions before their “unmasking.” ■ Reduced birth rate and population growth: The sharp decline in birth rate reported by the National Center for Health Statistics has resulted in w hat is probably an equivalent decline in the num ber of children born with clefts. This numerical decline may be a transient phenomenon in view of the large num ber of young girls who will enter the child-bearing years in the near future. T here are, for example, 1.1 million women who are now 39 years old, but 2.1 million who are 13. Even if the 13-year-olds merely replace themselves as they go through the child-bearing years, they will be producing twice as many babies as the 39-yearolds did. The population will continue to increase, as well as the anticipated number o f babies with clefts. ■ A critical look at the present: Although it may be comforting to our sense of achievement to look back and inventory the success of the past 25 years as measured by improved patient care and expanded research directed toward prevention, a critical look at the current scene is also warranted. There has been an excessive proliferation of teams, particularly in some large urban areas. Most are inadequately staffed and poorly equipped and meet infrequently with an inadequate case flow. Despite the avowed commitment to com pre hensive patient care, most cleft palate team s are dom inated by plastic surgeons, speech and hearing pathologists, and dental specialists. Pediatricians, otologists, and other medical specialists are poorly represented on cleft palate team rosters and in the membership of the American Cleft Palate Associ ation. Despite the frequency of feeding problems in children with clefts and the special requirements of postoperative care, members of the nursing profession are seldom included in the team . Few cleft palate teams are prepared to provide genetic counseling. A n opinion survey24 conducted by two graduate students revealed the relative roles o f nurses, pediatricians, and otologists on cleft palate teams. Although the response varied somewhat with the respondent’s discipline, nurses and pediatricians clearly were not regarded as essential to the care of children with clefts (Table). The ubiquity of middle ear disease18 and the relative high frequency of cardiac,25 ophthalm olog ic,26 and other disorders in children with clefts suggest the need for more comprehensive surveil-
T a b le ■ P ercen tag e of c left p a la te team coordinators
w ho regard nurses, p ed ia tric ia n s , or otologists as e x pen d ab le te am p ersonn el.
Nurses Pediatricians Otologists
All coordinators (n= 32) 81.2 40.6 12.5
% Coordinators Plastic Speech surgeons pathologists Otologists (n = 17) (n= 10) (n=5) 90.0 60.0 82.3 30.0 40.0 58.8 0.0 0.0 11.7
lance of patients with clefts than is currently being provided. Identification o f syndromes in children with clefts is directly proportional to the sophisti cation of the personnel in contact with the patients. For these reasons, the need for greater pediatric involvement in major cleft palate centers is urgent. There has been an unbridled enthusiasm for new procedures, such as presurgical maxillary orthopedics and prim ary bone grafting, without recognition of the need for documentation to prove the efficacy and benefits claimed. A uniform data base must be developed to perm it comparison of results between different centers. The explosive surge of research in develop mental biology demands that the N ID R continue to support training programs to provide a nuclear staff o f scientists capable o f moving conceptually and operationally into those newly developed areas that show promise o f contributing to the pre vention of craniofacial birth defects.
T h e fu tu re The prospects for im proved comprehensive care for patients with facial clefts will depend on con tinued and selective support of training programs that include additional pediatricians, otologists, and geneticists. So far, we have accepted the team approach as the most effective mechanism for health care de livery in cleft lip and palate. I now wish to suggest another phase in the team approach and that is the team of institutions. No single institution pos sesses all o f the professional strengths and re sources to meet the challenge. Therefore, institu tions must now form cooperative teams for patient care, teaching, and research. I propose that institutions within a given geo graphic area pool personnel and facilities to pro vide optimal care, better record keeping, and im proved research. In dealing with relatively rare entities, it is critical that a consortium model be
used to ensure the widest catch-basin of referrals. Economies in developing standardized records that are valid and reproducible may be anticipated. Central data storage facilities for retrieval and analysis of records will become possible. The need for cooperative data exchange will become even more critical as cleft palate teams diversify to include work with a wider range of craniofacial anomalies. Research on relatively rare syndromes is in a different category from much of the individual entrepreneurial investigations to which we have been accustomed. The need for sufficient data requires a new organizational scheme involving regional and nationwide net works o f collaborating institutions. This will allow for larger sampling than any one institution could possibly accrue. It will also perm it comparison of results between different regions. The impact of such interdisciplinary units on the curriculums of health science centers should not be overlooked. Such units provide an antidote to excessive specialization and departm entaliza tion. They serve as an educational link between disciplines joined together in a common effort in solving problems that are refractory to the unidisciplinary approach. This reorganization, which can only be made possible through federal support, will accelerate the logical expansion of cleft palate programs to include other craniofacial anomalies o f congenital, developmental, or acquired origin. Children with m alform ation syndromes o f the face, other than clefts, are at a stage similar to the one that existed for children with clefts 25 years ago. Patients who have had serious facial traum a as a result o f war injuries or automobile accidents stand to benefit from the resources of the cleft palate team. Simi larly, those who have undergone ablative surgery in the treatm ent o f cancer are beginning to gravi tate to such centers for optimal care. A reduction in the num ber o f independent cleft palate team s and a consolidation o f the most effec tive units into consortia are essential to meet the challenge posed by the emerging changes in pat terns o f patient ascertainment, referral, and agency control. The dominance o f crippled children’s programs that provided for the integrated care and supervision of the greatest num ber of children is being diluted by two factors: the growth of the other third party care agencies, circumventing the need for referral to state agencies; and the in creased num ber o f plastic surgeons and health science centers competing for referrals that tradi tionally were attracted by the dom inant urban university-based health center. The danger in this P r u z a n s k y : C L E F T LIP A N D P A L A T E ■ 1 0 5 3
decentralization is that data collection and peer review will disappear. Also, no one unit will be able to accumulate the critical mass of experience that makes for optimal patient care — as demon strated in heart surgery. Although it may be in the patient’s best interest to provide for most of his treatm ent at the local level, the need for a central facility to provide diagnosis and follow-up and for the development o f an appropriate data base becomes more critical than ever. Where the concern is with the relatively rare clinical entity, the dominance of the central facility must be retained.
C o n c lu s io n Looking back once more, it can be concluded that the money spent on cleft palate to date has been wisely invested. There are few serious congenital defects for which the prognosis for a socially and vocationally useful life is as good as it is for the child born with a cleft lip and palate. The task is to improve on this base and to extend the benefits o f our knowledge to the greater number. The search for preventive measures must be intensified, making use of various approaches that include the laboratory and clinical sciences, genetics, and epidemiology. Finally, I should like to conclude on a personal note. It seems that nearly every paper I have pub lished carried a footnote acknowledging support from the NID R. It seems appropriate to restate this acknowledgement and to add something else. I feel like the son attending the silver anniversary o f his parents’ marriage. For I realize if that event had not taken place and if they had not sent me to college, I would not be speaking to you from this platform today. So, to my parents and to N ID R, thank you very much.
Dr. Pruzansky is d ire c to r of th e c e n te r for craniofacial anom alies and professor of orthodontics in the d e p a rt m ent of ped iatrics, A braham Lincoln School of M e d ic in e, U niversity of Illinois at th e M e d ic a l C enter, C hicago, 60680. 1. P ruzansky, S., ed. C ongenital anom alies of th e face and associated structures. S p rin g field , III, C h arles C Thom as, 1961. 2. M eskin , L.H., and Pruzansky, S. V alid ity of the birth c e rtific a te in the epid em io lo g ic assessm ent of facial clefts. J D ent Res 46:1456 N ov-D ee 1967. 3. Fraser, F.C. The genetics of cleft lip and cleft p a l ate. Am J Hum G enet 22:336 M ay 1970. 1 0 5 4 ■ S P E C I A L I S S U E /J A D A , V ol. 8 7 , O c t o b e r 1 9 7 3
4. W hyte, L.L. S im ultaneous discovery. H a rp e r’s M ag 2 0 0 :2 3 Feb 1950. 5. Kobes, H .R ., and Pruzansky, S. The cleft p alate team — a historical review . Am J P ublic H ealth 50:200 Feb 1960. 6 . C ooper, H .K . C rip p le d children? Am J O rthod Oral Surg 28:35 Jan 1942. 7. Fogh -A ndersen, P. In heritance of harelip and cleft pa la te ; contribution to th e e lu cidatio n of the etiology of th e congenital c le fts of the face. C openhagen, A. Busck, 1942. 8 . K alter, H. T e ra to lo g y of the central nervous system: induced and spontaneous m alform ation of laboratory, a g ric u ltu ra l, and dom estic anim als. C hicago, U niversity of C h icag o Press, 1968. 9. W arkany, J. C ongenital m alform ations. N otes and com m ents. C h ic a g o , Y e a r B ook M edical P ublishers, 1971, p 29. 10. H ale, F. Pigs born w ithout eyeballs. J H ered 24:105 M arch 1933. 11. H a le , F. R elation of vitam in A to anophthalm os in pigs. Am J O phth 18:1 0 8 7 D ec 1935. 12. H a le , F. R elatio n of m aternal vitam in A deficiency to m icroph thalm ia in pigs. T e x S tate J M ed 33:228 July 1937. 13. G oldschm idt, R. Physiological genetics. N ew York, M c G ra w -H ill Book C o., 1938. 14. W arkany, J., and N elson, R.C. A p p e a ra n c e of s k e le tal ab n o rm alities in offspring of rats reared on a d eficien t d iet. S cie n c e 9 2 :3 8 3 O ct 25, 1940. 15. W arkany, J., and S ch raffenberger, E. C ongenital m alform ations induced in rats by roentgen rays. Am J R oentgenol Rad T h e r 57:455 A pril 1947. 16. Fraser, F.C., and Fainstat, T.D . The production of c ongen ital defects in offspring of pregnant m ice treated w ith cortisone: progress report. Pediatrics 8:527 O ct 1951. 17. G raber, T .M . C ran io facial m orphology in cleft p a l a te and cleft lip deform ities. Surg Gynecol O bstet 88:359 M arch 1949. 18. S p riestersbach, D .C ., and others. C linical research in cleft lip and cleft palate: the state of the art. C le ft P al a te J 10:113 A pril 1973. 19. M usgrave, R .H . P residential address: 1969. C left P ala te J 6:361 O ct 1969. 20. Pruzansky, S. Foundations of the C left P alate C e n te r and Train in g Program at th e U niversity of Illinois. A n g le O rthod 27:69 April 1957. 21. C lifford, E.; C ro cker, E.C.; and Pope, B.A. Psycho lo gical findings in th e adulthood of 98 cleft lip -p alate child re n . Plast R econstr Surg 50:234 Sept 1972. 22. B urdi, A., and others. E tiology and p athogenesis of c ongen ital c le ft lip and c left palate, an N ID R state of the art report. Te ra to lo g y 6:255 Dec 1972. 23. G orlin, R.J.; C e rv e n k a , J.; and Pruzansky, S. Facial c lefting and its syndrom es. Birth Defects: O rig A rt S eries 7:3, 1971. 24. N iem an, G., and G arstecki, D. Personnel com m u ni cation. 25. Shah, C .V .; Pruzansky, S.; and H arris, W .S. C ardiac m alform ations with fa c ia l clefts: with observations on the P ie rre Robin syndrom e. Am J Dis C hild 119:238 M arch 1970. 26. Sm ith, J.L., and S tow e, F.R. The P ierre Robin syn drom e (glossoptosis, m icrogn athic, cleft palate). A review of 39 cases w ith em phasis on associated ocu lar lesions. P ed iatrics 2 7:128 Jan 1961.