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The elfin facies syndrome
oral medicine Editor: JAMES W. LITTLE,
D.M.D.,
M.S.D.
Chairman and Professor Department of Oral Diagnosis and Oral Medicine University of Kentucky Lexington, Kentucky 40506
The elfin facies syndrome John R. Kelly, D.D.S.,” and Elizabeth. 8. Barr, D.M.D.,” Lexington, Ky. UNIVERSITY
OF KENTUCKY
COLLEGE
OF DENTISTRY
The elfin facies syndrome is characterized by idiopathic infantile hypercalcemia; mental retardation; cardiovascular anomalies, usually supravalvular aortic stenosis and peripheral pulmonary artery stenosis ; a peculiar elfin facies and oral anomalies, primarily enamel hypoplasia and oligodontia. The dental features found in the three cases reported include enamel hypoplasia, severe dental decay, oligodontia, pulp stones, microdontia, and abnormally small roots. Some consistent cephalometric abnormalities were thought to contribute to the unusual facial appearance of these patients.
T
he elfin facies syndrome (idiopathic hypercalcemia of infancy, WilliamsBarrat syndrome, supravalvular aortic stenosis syndrome) is a clinical entity similar to Mongolism in that it demonstrates, in part, a characteristic facies, mental retardation, cardiac anomalies, and peculiar dental manifestations. The cause of this syndrome complex is unknown at present. A review of the pertinent literature and clinical features in this syndrome, as well as several new case reports, will be presented in this article, with emphasis on the dental findings. REVIEW OF THE LITERATURE AND CLINICAL FEATURES Review of the literature Lightwood,l in 1932, was probably the first to describe what has since been termed idiopathic hypercalcemia of infancy with failure to thrive. Fanconi’ and Butler3 recalled the problem in 1951, when they simultaneously presented their observations on infants with coincident hypercalcemia, failure to thrive, generalized mental and physical retardation, and osteosclerosis of the skull. In “Graduate
Students,
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addition, they noted that the patients studied had an odd facies with epicanthic folds, alternating convergent strabismus, a receding mandible, and low-set ears. In 1961 Williams and associates” described four young children who presented what they believed to be a new syndrome consisting of mental retardation, supravalvular aortic stenosis, and a close facial resemblance to each other. In 1964 Beuren and co-workers” followed their preliminary 1962 report” with a thorough description of ten patients who had the same clinical findings as reported by Williams in 1961. In addition to the previously reported findings, Beuren’s group believed that there were specific dental malformations peculiar to the syndrome. In 1963 both Hooft; and Black” and their colleagues noted the similarity of the facies of patients with idiopathic hypercalcemia of infancy and supravalvular aortic stenosis and suggested that the patients with the lat,tcr syndrome complex represented survivors of the syndrome of infantile hypercalcemia. Clinical
features
The major clinical features of the elfin facies syndrome include (1) hppercalcemia of infancy or a clinical history of failure to thrive, anorexia, vomiting, and constipation in the first 2 or 3 years of life; (2) mental retardation; (3) cardiovascular anomalies, most frequently supravalvular aortic stenosis and multiple peripheral pulmonary artery stenosis; (4) oral anomalies, primarily enamel hypoplasia and oligodontia; and (5) a peculiar elfin facies consisting chiefly of epicanthic folds, underdevelopment of the mandible and the bridge of the nose, a wide mouth with a slack overhanging upper lip, and prominent, low-set ears93 lo Hypercalcemia of infuncy. The clinical signs of infantile hypercalcemia begin in the first year of life, sometimes as early as a few weeks after birth but usually at about 5 months of age, and involve particularly the nervous, renal, gastrointestinal, and cardiac systems.ll-“l The chief clinical symptoms are irritability, anorexia, vomiting, constipation, and failure to thrive normally. Chronic renal disease is frequently a part of the disorder and may present as polyurea, polydipsia, and hypertension.13, ~3 Ii. l’J, 22-24 FJarly cardiac signs usually include a significant but unexplained systolic murmur and occasional hypertensionz2* =, 25 All severely affected children have a peculiar elfin facies and anomalies of dental development.“, x During the periods of hypercalcemia in infancy the serum calcium is usuall! elevated to levels of about 11~5 mg./lOO m1.13,I4 and is usually accompanied by hypercholesterolemia13s I4 and a rise in blood urea.“’ I7325 Skeletal findings include osteosclerosis, particularly of the base and frontal regions of the skull, and microcephaly with craniostenosis.15-1s> 20,U+I The hypercalcemia of infancy, which usually disappears during the second or third year of life,25 is demonstrated in only a few of the older patients, but retrospective interviewing of the parents usually discloses periods in early life characterized by clinical symptoms consistent with the hypercalcemic periods.” Mental retards tion. Mental retardation is invariably present; however, the reason for the failure of mental development is unknown.3s
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The most distinctive psychologic characteristic of these children is an unusual command of language combined with an unexpectedly polite, open, and gentle manner. Initially the children appear to be more intelligent than they prove to be in later life. The sharp contrast between their language command and friendliness and their severe mental retardation is part of the special and peculiar personality which may be as distinctive as the other components of the syndrome.*‘~ 35-37 Cardiac anomalies. Cardiac findings are many, but they most frequently include supravalvular aortic stenosis and peripheral pulmonary artery stenosis, either alone or in combination. g*37 Usually an asymptomatic harsh systolic ejection murmur is discovered during the first few months of life.22, ~3 25 As the child grows older, however, increased exercise intolerance may be experienced.5p 6 Left-heart catheterization and angiocardiography are required for a definite determination of the site and size of the obstruction.5T F,38,3o Bourassa and associates,40 in 1963, first reported the association of supravalvular aortic stenosis and peripheral pulmonary artery stenosis.41, Q An awareness of the co-existence of these two conditions is important for the surgical management of these patients, since peripheral pulmonary artery stenosis is inoperable and map cause considerable difficulties in the postoperative period following correction of the supravalvular aortic stenosis.s Elfin facies. It is important to be able to recognize the facies in this syndrome, as it remains the most overt expression of the disease complex.43 The facies is characterized by many of the following features, different combinations of which produce different variants of the same elfin appearance. The chief individual features include (1) wide epicanthic folds and a frequent convergent strabismus.27, 28,31136*44-48 The eyes are widely spaced and sometimes described as prominent and staring. 44 The inner third of the eyebrows of the has sometimes been reported missing.45 (2) There is underdevelopment bridge of the nose, causing it to appear pinched and upturned with the nostrils pointing forward. gr *7, 28p31,36,+ 46,48 (3) The upper lip is prominent and appears loose. The lip lacks the usual cupid’s bow, and the pars villosa may persist. The mouth is sometimes described as being large, wide, and asymmetrical and is generally kept open, the lower lip hanging slackly.“, 27,31,34,w 46-48Thus, the lips have a flabby, pouting appearance. 9 High arched palates have been described in some cases.3,7*25,44,4g (4) The temples are narrow,31, 4Gand the forehead is sometimes rounded and prominent49 o, 31,3fis45 (5) The chin is pointed and usually described as receding.4, 9s~3 28,31136,44s46,48 This recessive appearance has been attributed to a short mandibular body compared to the ramus and a larger than normal gonial angle. 5, 6s43,45 Prognathism, however, has been reported in several cases.4,5o The prominent forehead and receding chin cause the profiles of these infants to run downward and backward, and therefore the Frankfort plane does not even approximate a right angle with the profile.45 Very often heavy, pouting, drooping cheeks are seen, especially during the first 3 years of life.“, 9, 20,25 (6) The ears may be large and appear low set and prominent.4+ 9, 31s3B,44,45 Although they appear low, there is a normal relationship of the external auditory meatus with the base of the sku11.45The illusion of
Pig. 1. A and B, Three-montkold
white hoy demonstrating the typical elfin facies of early
life.
low-set ears is created by the typical extended or “chin-up” head position that these children adopt.:“, 4i This creates the appearance of a swan’s neck, often combined in males with a prominent Adam’s apple.3 Finally, a relative increase in the size of the pinna below the meatus mill make the ear appear low set.“;’ Other characteristics seen less frequently include a deep, metallic voice,5, $1,19,25 transient facial paralysis,27, 28,3fij4*, 51 reduced circumference of the skull, and occasional craniostenosis.2i’ 32sx, 44.4(i Most of the reports of the facies describe small children; however, the facial appearance changes somewhat with age. In the first years of life, the face is rounded, with a froglike appearance (Fig. 1, B and I?). From 6 to 8 years of a.ge the typical elfin face further develops as the frontal region becomes flat, the glabella becomes more prominent, the eyes are deep set, and the cheek bones arc more pronounced. In older persons, the nose is sharp and pointed, and all bony parts of the face are accentuated.” Although several earlier case reports had mentioned delayed Or& ammrnlies. eruption of teeth, 28,52 high caries rates,l, 35 and malaligned teeth,:, 35 Beuren and co-authors,” in 1964, first presented a detailed report on the dental anomalies of ten cases and considered the findings distinctive enough to constitute a definitive part of the syndrome. The most frequent dental anomalies described are generalized enamel hypoplasia, oligodontia, and microdontia.“, D,I37w ~3 oa,63-5S The enamel hypoplasia and hypocalcification possibly explain the gross tooth
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Fig. 8. Case 1, Patient A. J. W. A, Facial appearance of patient at 12 months of age. I? and C, Facial appearance at 7 years of age. D, Dentition at age 7 showing extensive caries. absence of upper E, Bitewing radiograph showing pulp stones, extensive caries, congenital second premolar, and abnormally small roots of deciduous molars. F, Cephalometric tracing.
decay that is usually seen in these patients. The microdontia seems to express itself primarily in the incisors, although Beuren and associates” and others13, 54 also reported a peculiar bud-shaped malformation of deciduous molars. Beuren postulated that this was eaused by convergence of the lateral surface of the tooth and was sometimes combined with marked reduction of the cusps formed from
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the hypoconium and the metaconium.” The roots of the permanent teeth have been reported to be small and slender.“, !’ Oligodontia is reported to affect both the deciduous and permanent dtntitions. In the deciduous dentition, lower incisors are sometimes congmitally missing,l” while in the permanent dentition the teeth reported missing are both the upper and lower lateral incisors,“’ 4Aupper and lower first and second prcmolar+ 43 and lower second molars. 43 Generally, more mandibular teeth are missing than maxillary teeth.5, 43 Other reported findings include invagination of upper permanent incisors,“, 5G small pulp chambers,““, 5npulp stones,‘“, In, lx, 5odelayed eruption of the deciduous dentition,“Rs 33,52,54numerous and pronounced buccal and labial frenula,!’ folded, edematous, and thickened buccal mucosa,!’ macrosto’mia,” and osteosclerotic changes and a thickening of the lamina dura, especially in the premolar and molar region.!’ Malocclusions usually involve an underdevelopment of the mandible, resulting in a Class II relationship with a tendency toward an obtuse gonial anglc.4z Also seen are a deep overbite and generalized malalignment of individual teeth.” Etiology
The etiology of the elfin facies syndrome is unknown. An excessive intake of vitamin I>, resulting in an excess absorption of calcium from the gut, was originally suggested as the causative factor of infantile hypcrca1cemia.“7-“” Vitamin I) intake, however, could not be the sole factor leading to the devclopment of this disorder because so many children likewise receiving high doses of vitamin I) did not develop the hypercalcemia. There are also many cases of the disease in which excess vitamin I> intake cannot be demonstrated. This suggests that an abnormal sensitivity to vitamin I) may exist, either as an extreme of the normal physiologic variation or as an inborn metabolic defect causing the hypercalcemia.S2, *I, .5’s50-‘i1 The association between hypercalcemia in infancy and supravalvular aortic stenosis is probably not one of direct cause and effect. The phenomenon may, instead, have a common cause which is, as yet, unidentified.“3 Each feature may be one component of a genetically determined multiple-system abnormality, or the total syndrome may stem from a derangement of vitamin I> metabolism.6” The cause of the facies is unknown. Russell and associates*g and otherP have suggested that it results in part from an abnormal growth of the basisphenoid. Histologically, the architecture of this bone is prcscrved in the sclerotic area and shows abnormal endochondral ossification.27, +-I When the syndrome was described with a characteristic facies, it was natural to look for a chromosomal anomaly comparable to that found in Down’s syndrome. With the exception of one case of a mosaic 19-20 reported in 1963,“’ all chromosome studies that have been done report normal karyotypes.5a 6, <‘,M-IS THREE CASE REPORTS WITH CASE
EMPHASIS
ON THE DENTAL
FINDINGS
1
A. J. TV., :L 7-year-old the University of Kentucky
white girl, was referred from the Pediatric Cardiology Medical Center for evaluation of her dental condition.
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I. Cephalometric results in three cases
Table
Patients Measurement SNA (degrees) SNB (degrees) ANB (degrees) GoGo-SN (degrees) S-ANS (mm.) ANS-Gn (mm.) N-Gn (mm.) NPo-NB (mm.) NPo-F.H. (degrees) Y axis-F.H. (degrees) NA-APO (degrees)
Medical
1
Case 1-A. J. W. 80 73.5 7 46 41.0 70.0 107.0 -2.0 E.5 16
1
Ca.se 8-J. D. T. 78 75 3 45 42.0 70.0 108.0 -5.0 83 64 10
1
Case 3-B. D. A. 85 76.5 8 40 36.0 58.0 97.0 -4.0 74 74.5 19.5
history
At birth the patient was the 6 pound 11 ounce product of an uncomplicated term pregnancy. During the first 12 months of life, she experienced difficulties with feeding, anorexia, and some vomiting. This was diagnosed as “milk intolerance” and the patient was placed on special formulas. At 13 months of age (Fig. 2, a) she underwent a surgical procedure for relief of torticollis, at which time a systolic heart murmur was first noticed. When the child was 4 years old, cardiac catheterization revealed bilateral peripheral pulmonary artery stenosis, diffuse supravalvular aortic stenosis extending from the sinus of Valsalva to the right subclavian artery, and mild pulmonic stenosis. At the age of 6, she was first seen by the Pediatric Cardiology Department at the University of Kentucky Medical Center, and in view of the previous catheterization findings and the observation of mild mental retardation and a peculiar facies, she was diagnosed as having the elfin facie% syndrome. In spite of her rather severe cardiac condition, she has remained quite asymptomatic. Clinical
examination
The patient had typical elfin facies (Fig. 2, B and C), showing a prominent forehead, large, protruding ears, and rounded, drooping cheeks. The eyes demonstrated mild epicanthic folds and appeared widely spaced. The temples were narrow, and the mouth was wide, while the chin was pointed and receding. The nose was upturned, with forward-pointing nostrils and a depressed nasal bridge. Dental
examination
There were large carious lesions in all teeth except three deciduous canines and the four recently erupted lower permanent incisors (Fig. 2, D). The extensive decay in the deciduous dentition as well as the pattern of involvement on the permanent first molars indicated that enamel hypoplasia was most probably present. The size of the erupted teeth appeared to be within normal limits. A unilateral right posterior cross-bite was present, and the patient demonstrated what was thought to be a pseudo-Class III jaw relationship caused by adaptation to occlusal interference of the deciduous canines. With the exception of a fistulous tract from a pulpally involved upper deciduous incisor, the oral mucous membranes were within normal limits. Radiographic
examination
Periapical and Panorex radiographs revealed the bilateral congenital absence of maxillary second premolars. Multiple pulp stones or denticles were present in both deciduous and permanent teeth (Fig. 2, E). The roots of the deciduous molars appeared abnormally small, but it could not be determined whether this was caused by irregular formation or an acceleration of the resorptive process. The lamina dura appeared to be within normal limits. A cephalometric radiograph (Figure 2, P) revealed an ANB angle of 7 degrees, an NA-APO angle of 16 degrees, an SN-GoGn angle of 46 degrees, and a -2.0 mm. chin button (Table I).
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E’ig. 9. Case 2, Patient J. D. T. A and Z5, Facial appearance of pnticnt C, Dentition at age 6 showing extensive caries. D, Cephalometric tracing.
at 6 years of age.
CASE 2
J. D. T., a 6-year-old white boy, was referred from the Pediatric Cardiology Department of the University of Kentucky Medical Center for comprehensive dental treatment before a scheduled cardiac catheterization. Medical
history
At birth the patient was the 7 pound 3 ounce product of a normal full-term pregnancy and delivery. He was cyanotic at birth, and this was frequently aggravated when he cried. A harsh systolic murmur was discovered at his B-week checkup. At the age of 3 months he was noted to have a peculiar facies with webbing of the neck, prominent ears, and poor muscle control. The patient was unable to hold his head up until he was 9 months old, and he did not walk until he was 2 years old. His first teeth erupted at 7 to 8 months of age, and his parents noticed that they began to decay before 1 year of age. The neonatal period was characterized by (1) early periods of jaundice lasting until 6 weeks of age with no apparent complications, (2) respiratory difficulties characterized by cyanosis, nasal flaring, and sternal retractions, and (3) feeding difficulties, with frequent vomiting and occasional periods of constipation. He was bottle fed until the age of 3 to 4 years. The child has never been able to keep up with his peers in play or exercise. He has occasional temper tantrums but otherwise socializes well with his friends. He is frightened of strangers and is thought to be mildly to moderately mentally retarded. Cardiac catheterization at the age of 6 years revealed mild supravalvular aortic stenosis with no pulmonary stenosis.
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Fig. 4. Case 3, Patient B. D. A. 8, Facial appearance of patient at age of 6 months. B and C, Facial appearance at 3 years of age. D, Dentition at age 3 showing absence of lower deciduous incisor and uniform discoloration. E, Anterior mandibular radiograph showing congenital absence of deciduous and permanent incisors. F, Cephalometric tracing. Clinical
examinalion
The patient had a typical elfin facies (Fig. 3, B and G) with a prominent forehead, large, protruding ears, a depressed nasal bridge, an upturned nose with forward-pointing nostrils, a wide mouth and pouting lips, narrow temples, and a receding, pointed chin. No epicanthic folds or hypertelorism were demonstrated. Dental
examination
Severe dental caries was present in every tooth (Fig. 3, C). The location, extent, and pattern of decay indicated the probability that severe enamel hypoplasia was present before
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examination
Panorex and periapical radiographs revealed a full complement of permanent and deciduous teeth with no observable abnormalities. The permanent tooth buds appeared uniformly small. The cephalometric radiograph (Fig. 3, U) revealed digital markings in the occipital region as well as a GoGn-Sn angle of 45 degrees, an ANB angle of 3 degrees, an NA-APO angle of 10 degrees, and a -5.0 mm. chin button (Table 1). CASE
3
H. 1). A., a 3-year-old white girl, was referred the University of Kentucky Medical Center for cardiac surgery. Medical
from the Pediat,ric Cardiology Clinic of comprehensive dental treatment before
history
pregnancy and At birth she \vas the 6 pound 1% ounce product of a normal full-term delivery (Fig. 4, A). Her mother recalled no feeding difficulties during the first year of life but tlid note frequent episodes of constipation and intermittent periods of cyanosis. At 1 year of age, a systolic heart murmur was discovered and the child was placed on Digoxin. The patient developed slowly and did not walk until she was 2 years of age. When evaluated she was found to have an 1.Q. of 54 and moderate to severe hearing loss bilaterally of unknown etiology. At present she speaks only a few words, plays by herself, and cannot keep up with her siblings in play or exercise. Cardiac catheterization revealed to no discrete area of stenosis but, rather, n minimal narrowing of the entire ascending root of the aorta. A patent ductus arteriosus was also discovered. Clinical
examination
The patient is a very small, apprehensive child with a typical elfin facies (Fig. 4, B and C). Her eyes demonstrate hypertelorism, a convergent strabismus, and wide epicanthic folds. She has a depressed nasal bridge and an upturned nose, with forward-pointing nostrils. Her forehead is rounded and prominent, and the chin is receding and pointed. She has an openmouth posture with a prominent loose upper lip and a slack, hanging lower lip which contributes to her pouting appearance. Her ears appear rather small. Dental
examination
Intraoral examination revealed a congenital absence of the lower deciduous incisor and a uniform yellow discoloration of the remaining deciduous teeth that was histologically confirmed to be caused by tetracycline staining (Fig. 4, D). The caries rate was moderate, and enamel hypoplasia was not evident. The occlusion demonstrated a menial step or Class I molar relationship. The size of all the erupted teeth appeared to be within normal limits. The only soft-tissue abnormality was ankyloglossia, which the parents report has heen unsuccessfully treated several times. Radiographic
examination
Panorex and periapical radiographs revealed the congenital absence of and a permanent lower incisor (Fig. 4, E) as well as the bilateral absence second premolars. The lamina dura, the deciduous molar root structure, and appeared to he within normal limits. The cephalometric radiograph (Fig. digital markings in the occipital region as well as a GoGn-Sn angle of 40 angle of 8 degrees, an NA-APO angle of 19.5 degrees, and a chin button of 1).
both a deciduous of the maxillary the tooth size all 4, P) revealed degrees, an ANB -4.0 mm. (Table
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DISCUSSION The elfin facies syndrome has not been described in the dental literature. For several reasons, however, the dentist should be familiar with the syndrome and the treatment implications. The single most important factor for the dentist to consider, if this syndrome is suspected, is that cardiac involvement should be ruled out before proceeding with dental treatment which might initiate a bacteremia and possibly induce bacterial endocarditis. The enamel hypoplasia and the mental and physical retardation may combine to make dental caries a significant problem for these children, and thus they frequently are referred for extensive dental treatment. The dentist should, therefore, be able to recognize the disease, counsel the parents on the importance of preventive dental care for the child’s over-all health, and initiate proper antibiotic prophylaxis before starting any dental treatment that would initiate a bacteremia.70 The most readily apparent characteristic of the syndrome is the facies. While authors agree that most facial characteristics are caused by alterations in the contours of soft tissues and thus probably are due to some genetic influence, certain features can be explained on the basis of underlying bony characteristics.27, 31,37 Early periods of hypercalcemia resulting in abnormally dense calcification of the cranial base could cause stenosis of some of the cranial sutures and synchondroses. Schlesinger and co-workersZ7 found abnormal calcification in the sphenoidal synchondroses at necropsy in one infant. The fact that some form of cranial stenosis has probably occurred is also demonstrated by the premature fusion of sutures of the cranial vault and by the presence of digital markings. These findings were seen in two of the patients reported in this article as well as in many other reports. A premature fusion of the sphenooccipital or spheno-ethmoidal synchondroses could result in an abnormal shortening of the cranial base which would be manifested as a depression of the nasal bridgeeG3 Cephalometric radiographs seem to indicate that the retrusive mandibular appearance is caused by a combination of four factors: a high ANB angle, a high angle of convexity (NA-APO), a high mandibular plane angle (SN-GoGn), and a negative chin button (NPo-NB). Each of the three patients that we studied had a large ANB angle and a large angle of convexity (NA-APO) consistent with a Class II skeletal relationship. The ANB angles ranged from 3 to 8 degrees, and the angle of convexity from 10 to 19.5 degrees. In addition to this, each of the patients had a steep mandibular plane angle (SN-GoGn), ranging from 40 to 46 degrees, and a negative chin button value (NPo-NB) that ranged from -2.0 mm. to -5.0 mm. (Table I). Severe enamel hypoplasia resulting in extensive dental decay was present in two of the three patients in our report. Oligodontia involving both deciduous and permanent, lower incisors and upper second premolars was also found in two patients. In view of the fact that both of these patients were less than 8 years old, the absence of premolars may represent retarded development rather
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than agenesis of the tooth germs. Other oral anomalies obscrrctl were pulp stones, ankyloglossia, microdontia, and abnormally small roots of deciduous molars. SUMMARY The elfin facies syndrome is a disorder of unknown etiology that consists of infantile hypercalcemia, mental retardation, cardiovascular anomalies, a peculiar elfin facies, and oral anomalies. All of the features of the disease have been reviewed, the implications of treatment have been discussed, and three case reports have been presented. REFERENCES
1. Lightwood,, R.: Case of Dwarfism and Calcinosis Associated With Widespread Arterial Degeneration, Arch. Dis. Child. 7: 193-208, 1932. Phosphatstoffwechsels in Chronische Stiirungen des Calcium-mid 2. Fanconi, G.: ifber Kindesalter, Schweiz. Med. Wochenschr. 81: 908913, 1951. 3. Butler, N. R.: Generalized Retardation With Renal Impairment, Hypercalcaemia, and Osteosclerosis of Skull, Proc. R. Sot. Med. 44: 296-297, 1951. 4. Williams, J. C., et al.: Supravalvular Aortie Stenosis, Circulation 24: 1311-1318, 1961. of Supravalvular Aortic Stenosis, Peripheral 5. Beuren, A. J., et al.: The Syndrome Pulmonary Stenosis, Mental Retardation and Similar Facial Appearance, Am. J. Cardiol. 13: 471-483, 1964. 6. Beuren, A. J., et al.: Supravalvular Aortic Stenosis in Association With Mental Retardation and a Certain Facial Appearance, Circulation 26: 12351240, 1962. Concerning the Evolution of the Chronic Form of 7. Hooft, C., et al.: Observations Idiopathic Hypercalcemia in Children, Helv. Paediatr. Acta 18: 138147, 1963. 8. Black, J. A., et al.: Association Between Aortic Stenosis and Facies of Severe Infantile Hypercalcemia, Lancet 2: 745-749, 1963. 9. DuPont, B., et al.: Idiopathic Hypercaleemia of Infancy, the Elfin Face Syndrome, Dan. Med. Bull. 17: 33-46, 1970. 10. Scholz, D. A., et al.: Diagnostic Considerations in Hypercalcemic Syndromes, Med. Clin. North Am. 56: 941950, 1972. 11. Bauman, A., et al.: Idiopathic Hypercalcemia of Infancy Simulating Congenital Heart Disease, N. Y. J. Med. 65: 19,10-1917, 1965. 12. Bonham Carter, R. E., et al.: Calcium Metabolism in Idiopathic Hypercalcemia of Infancy With Failure to Thrive, Arch, Dis. Child. 30: 399, 19155. 13. Stare, F. J., et al.: Congenital Supravalvular Aortic Stenosis, Idiopathic Hypercaleemin and Vitamin D, Nutr. Rev. 24: 311-313, 1966. 14. Crome, L., et al.: A Case of Severe Hypercalcemia of Infancy With an Account of the Neuropathologic Findings, Arch. Dis. Child. 35: 620-625, 1960. 15. Damson, I. M. P., et al.: Idiopathic Hypercalcemia in an Infant, Clinical and Post Mortem Findings in One Case, Arch. Dis. Child. 29: 475-482, 1954. 16. Eban, R..: Idiopathic Hypercalcemia of Infancy, Clin. Radio]. 12: 31-40, 1961. 17. Feinberg, S. B., et al.: Severe Idiopathic Hypercalcemia of Infancy, Am. J. Roentgenol. Radium Ther. Nucl. Med. 80: 468.474. 1958. 18. Gribetz, D., et al. : Tdiopathic Hypercalcemia, Am. J. Med. 26: 936-944, 1959. 19. Mann, T. P.: Infantile Hypercalcemia Syndrome (Without Hyperealcemia), Proc. R. SOC. Med. 62: 328, 1969. 20. Synder, C. H.: Idiopathic Hypercalcemia of Infancy, J. Dis. Child. 96: 376-380, 1958. 21. Bicoff, J. P., et al. : Severe Aortic Stenosis in Infancy, J. Pediatr. 63: 161-164, 1963. 22. Bliddal, J., et al.: Coarctation of the Aorta With Multiple Artery Anomalies in Idiopathic Hypercalcemia of l.nfancy, Acta Paediatr. &and. 58: 632-637, 1969. Arterial Stenosis in Association 23. Bonham Carter, R. E., et al.: A Syndrome of Multiple With the Severe Form of Idiopathic Hypercaleemia, Arch. Dis. Child. 39: 418-419, 1964. Hypercalcemia and Vitamin D--Public Health 24. Fraser, D.: The Relation Between Infantile Implications in North America, Pediatrics 40: 1050-1061, 1967. 25. Jue, K. L., et al. : The Syndrome of Idiopathic Hyperealcemia of Infancy With Associated Congenital Heart Disease, J. Pediatr. 67: 1130-1149, 1965. 26. Eie, H., et al.: Localized Supravalvular Aortic Stenosis Combined With Mental Retardation and Peculiar Facial Appearance, Acta Med. &and. 191: 517-520, 1972. 27. Schlesinger, B. E., et al.: Severe Typo of Infantile Hypercalcemia, Br. Med. J. 1: 127-134, 1956.
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28. Bongiovanni, A. M., et al.: Idiopathic Hypercalcemia of Infancy, With Failure to Thrive; Report of Three Cases With a Consideration of the Possible Etiology, N. Engl. J. Med. 257: 951-958. 1957. 29. Forfar, J. O:, et al. : Idiopathic Hypercalcemia of Infancy ; Clinical and Metabolic Studies With Special Reference to the Etiologic Role of Vitamin D, Lancet 1: 981, 1955. 30. Forfar, J. 0.: Biochemical Studies in Idiopathic Hypercalcemia of Infancy, Arch. Dis. Child. 34: 525.537, 1959. 31. O’Brien, D., et al.: Idiopathic Hyperca,lcemia of Infancy, J. A. M. A. 173: 1106-1110, 1969. 32. Singleton, E. B.: The Radiographic Features of Severe Idiopathic Hypercalcemia of Infancy, Radiology 68: 721-726, 1957. 33. Antia, A. U., et al.: Pathogenesis of the Supravalvular Aortic Stenosis Syndrome, J. Pediatr. 71: 431-441, 1967. 34. Chang, C. H. J., et al.: Abnormal Muscle Cylinder Ratio in Infantile Hypercalcemia: A New Roentgen Sign, Am. J. Roentgenol. 108: 533, 1970. 35. Von Arnim, G., et al.: Mental Retradation Related to Hypercalcemia, Dev. Med. Child. Neurol. 6: 366-377, 1964. 36. Gibson, R. : Mental Retardation in Idiopathic Infantile Hypercalcemia, Am. J. Ment. Defic. 63: 433-437, 1958. 37. Joseph, M. D.: Sequelae of Infantile Hypercalcemia, Dev. Med. Child. Neurol. 6: 419-421, 1964. 38. Coleman, E. N.: Electrocardiographic Changes In Idiopathic Hypercalcemia of Infancy, Br. Med. J., No. 5150, pp. 467-470, 1959. 39. Coleman, E. N.: Infantile Hypercalcaemia and Cardiovascular Lesions : Evidence, Hypothesis and Speculation, Arch. Dis. Child. 40: 535.540, 1965. 40. Bourassa, M. G.. et al.: Combined SuDravalvular Aortic and Pulmonic Stenosis, Circulation * 28: 209~i20, 1983. 41. Sarin, R. K., et al.: Combined Supravalvular Aortic and Pulmonary Artery Stenosis, Angiology 19: 293-298, 1968. 42. Watson, G. H.: S’upravalvular Pulmonary and Aortic Stenosis Coexisting, Br. Heart J. 25: 817-820, 1963. and Other Associations of Infantile Hypercaleemia, 43. Chantler, C., et al.: Cardiovascular Guys Hosp. Rep. 115: 221-241, 1966. 44. Daeschner, G. L.: Severe Idiopathic Hypercalcemia of Infancy, Pediatrics 19: 362-371, 1957. 45. Joseph M. C., et al.: Severe Infantile Hypercalcemia With Special Reference to the Fades, Arch. Dis. Child. 33: 385-39’5, 1958. 46. Gorlin, R. J., and Pindborg, J. J.: Syndromes of the Head and Neck, New York, 1964, McGraw-Hill Book Company, Inc., pp. 317-318, 525. 47. Clegg, H., et al.: Hypercalcemia in Infancy, Br. Med. J. 2: 1155-1156, 1954. 48. Winton, R. R.. et al.: The Facies of SuDravalvular Aortic Stenosis. Med. J. Aust. 1: 16-17, 1964. ’ ’ 49. Russell, A., et al.: Severe Idiopathic Infantile Hypercalcemia, Proc. R. Sot. Med. 47: 1036-1040. 1954. 50. Ottese?, d. E.: Peripheral Vascular Anomalies Associated With the Supravalvular Aortic Stenosis Syndrome, Radiology 86: 430-435, 1966. 51. Fellers, F. X.: Idiopathic Hypercalcemia of Infancy and Vitamin D Metabolism, Helv. Paediatr. Aeta 14: 483-490, 1959. 52. Rashkind W. J., et al.: Cardiac Findings in Idiopathic Hypercalcemia of Infancy, J. Pediatr. 58: 464-469, 1961. L. C., et al: Idiopathic Hypercalcemia of Infancy With Interruption of the 53. Harris, Aortic Arch, J. Pediatr. 73: 84-88, 1968. 54. Kupic, E. A., et al.: Supravalvular Aortic Stenosis, Am. J. Roentgenol. 98: 822-835, 1966. 55. Gellis, 5. S., et al. : Picture of the Month : Infantile Hypercalcemia With Mental Retardation, Am. J. Dis. Child. 115: 471-472, 1968. 56. Barold, S. S., et al.: Coarctation of the Aorta With Unusual Facies and Mental Retardatian, Ann. Int. Med. 69: 103-106, 1968. 57. Forbes, G. B., et al.: Impaired Calcium Romeostasis in the Infantile Hypercalcemic Syndrome, Acta Paediatr. Stand. 61: 305-309, 1972. 58. Hallman,. N., et al.: Chronic Hypercalcemia and Vitamin D in Childhood: Clinical Observations. Ann. Paediatr. Fenn. 1: 338-354. 1954-55. ~~ ---, ~-~~ -59. Stapleton, T:, et al.: The Pathogenesis of Idiopathic Hypercalcemia of Infancy, Am. J. Clin. Nutr. 5: 533-542, 1957. 60. Stapleton, H., et al.: Idiopathic Hypercalcemia of Infancy, Helv. Paediatr. Acta 10: 149-155. -Is55 61. Coursin,, D. B., et al.: Vitamin D Intake and the Hypercalcemia Syndrome, Pediatrics 3.5: 1022-1023, 1965. 62. Garcia, R. E., et al.: Idiopathic Hypercaleemia and Supravalvular Aortic Stenosis; Documentation of a New Syndrome, N. Engl. J. Med. 271: 117-120, 1964.
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63. Gray. Ii.: Textbook of Anatomv. ed. 30. Philadelahia. 1949. Lea & Febieer. u. 306. 64. Palmer, C. G.: Chromosome S&lies in Patient; &th Supravalvular ?&ic Stenosis, Lancet 2: 788-789, 1963. 65. Merritt, A. D., et al.: Supravalvular Aortic Stenosis: Genetic and Clinical Studies, J. Lab. Clin. Med. 62: 995, 1963. 66. Joseuh M. C.. et al.: Chromosome Studies in Patients with Sunravalvular Aortic Stenosis: Letter to Editor, Lancet 2: 788-789, 1963. With Hupravalvular Aortic 67. DeGrouchy, J., et al.: Chromosome Studies in Patients Stenosis; Letter to Editor, Lancet 2: 786-789, 1963. 68. Eberle, P., et al.: Chromosome Studies in Patients With Supravalvular Aortic Stenosis, Lancet 2: 438. 1963. 69. Palmer, C. G.; et al.: Supravalvular Aortic Stenosis : Genetic and Chromosomal Studies, Abstracts, Conference of American Eugenics Society, New York, July, 1963. 70. Sorenson, H. W.: The Pedodontic Patient With Heart Disease, Dent. Clin. North Am. 17: 173-186, 1973. Reprint requests to: Dr. John R. Kelly Department of Pedodontics The University of Kentucky College of Dentistry Lexington, Ky. 40506
D.M.D.,
M.S.D.
Chairman and Professor Department of Oral Diagnosis and Oral Medicine University of Kentucky Lexington, Kentucky 40506
The elfin facies syndrome John R. Kelly, D.D.S.,” and Elizabeth. 8. Barr, D.M.D.,” Lexington, Ky. UNIVERSITY
OF KENTUCKY
COLLEGE
OF DENTISTRY
The elfin facies syndrome is characterized by idiopathic infantile hypercalcemia; mental retardation; cardiovascular anomalies, usually supravalvular aortic stenosis and peripheral pulmonary artery stenosis ; a peculiar elfin facies and oral anomalies, primarily enamel hypoplasia and oligodontia. The dental features found in the three cases reported include enamel hypoplasia, severe dental decay, oligodontia, pulp stones, microdontia, and abnormally small roots. Some consistent cephalometric abnormalities were thought to contribute to the unusual facial appearance of these patients.
T
he elfin facies syndrome (idiopathic hypercalcemia of infancy, WilliamsBarrat syndrome, supravalvular aortic stenosis syndrome) is a clinical entity similar to Mongolism in that it demonstrates, in part, a characteristic facies, mental retardation, cardiac anomalies, and peculiar dental manifestations. The cause of this syndrome complex is unknown at present. A review of the pertinent literature and clinical features in this syndrome, as well as several new case reports, will be presented in this article, with emphasis on the dental findings. REVIEW OF THE LITERATURE AND CLINICAL FEATURES Review of the literature Lightwood,l in 1932, was probably the first to describe what has since been termed idiopathic hypercalcemia of infancy with failure to thrive. Fanconi’ and Butler3 recalled the problem in 1951, when they simultaneously presented their observations on infants with coincident hypercalcemia, failure to thrive, generalized mental and physical retardation, and osteosclerosis of the skull. In “Graduate
Students,
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of Pedodontics.
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addition, they noted that the patients studied had an odd facies with epicanthic folds, alternating convergent strabismus, a receding mandible, and low-set ears. In 1961 Williams and associates” described four young children who presented what they believed to be a new syndrome consisting of mental retardation, supravalvular aortic stenosis, and a close facial resemblance to each other. In 1964 Beuren and co-workers” followed their preliminary 1962 report” with a thorough description of ten patients who had the same clinical findings as reported by Williams in 1961. In addition to the previously reported findings, Beuren’s group believed that there were specific dental malformations peculiar to the syndrome. In 1963 both Hooft; and Black” and their colleagues noted the similarity of the facies of patients with idiopathic hypercalcemia of infancy and supravalvular aortic stenosis and suggested that the patients with the lat,tcr syndrome complex represented survivors of the syndrome of infantile hypercalcemia. Clinical
features
The major clinical features of the elfin facies syndrome include (1) hppercalcemia of infancy or a clinical history of failure to thrive, anorexia, vomiting, and constipation in the first 2 or 3 years of life; (2) mental retardation; (3) cardiovascular anomalies, most frequently supravalvular aortic stenosis and multiple peripheral pulmonary artery stenosis; (4) oral anomalies, primarily enamel hypoplasia and oligodontia; and (5) a peculiar elfin facies consisting chiefly of epicanthic folds, underdevelopment of the mandible and the bridge of the nose, a wide mouth with a slack overhanging upper lip, and prominent, low-set ears93 lo Hypercalcemia of infuncy. The clinical signs of infantile hypercalcemia begin in the first year of life, sometimes as early as a few weeks after birth but usually at about 5 months of age, and involve particularly the nervous, renal, gastrointestinal, and cardiac systems.ll-“l The chief clinical symptoms are irritability, anorexia, vomiting, constipation, and failure to thrive normally. Chronic renal disease is frequently a part of the disorder and may present as polyurea, polydipsia, and hypertension.13, ~3 Ii. l’J, 22-24 FJarly cardiac signs usually include a significant but unexplained systolic murmur and occasional hypertensionz2* =, 25 All severely affected children have a peculiar elfin facies and anomalies of dental development.“, x During the periods of hypercalcemia in infancy the serum calcium is usuall! elevated to levels of about 11~5 mg./lOO m1.13,I4 and is usually accompanied by hypercholesterolemia13s I4 and a rise in blood urea.“’ I7325 Skeletal findings include osteosclerosis, particularly of the base and frontal regions of the skull, and microcephaly with craniostenosis.15-1s> 20,U+I The hypercalcemia of infancy, which usually disappears during the second or third year of life,25 is demonstrated in only a few of the older patients, but retrospective interviewing of the parents usually discloses periods in early life characterized by clinical symptoms consistent with the hypercalcemic periods.” Mental retards tion. Mental retardation is invariably present; however, the reason for the failure of mental development is unknown.3s
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The most distinctive psychologic characteristic of these children is an unusual command of language combined with an unexpectedly polite, open, and gentle manner. Initially the children appear to be more intelligent than they prove to be in later life. The sharp contrast between their language command and friendliness and their severe mental retardation is part of the special and peculiar personality which may be as distinctive as the other components of the syndrome.*‘~ 35-37 Cardiac anomalies. Cardiac findings are many, but they most frequently include supravalvular aortic stenosis and peripheral pulmonary artery stenosis, either alone or in combination. g*37 Usually an asymptomatic harsh systolic ejection murmur is discovered during the first few months of life.22, ~3 25 As the child grows older, however, increased exercise intolerance may be experienced.5p 6 Left-heart catheterization and angiocardiography are required for a definite determination of the site and size of the obstruction.5T F,38,3o Bourassa and associates,40 in 1963, first reported the association of supravalvular aortic stenosis and peripheral pulmonary artery stenosis.41, Q An awareness of the co-existence of these two conditions is important for the surgical management of these patients, since peripheral pulmonary artery stenosis is inoperable and map cause considerable difficulties in the postoperative period following correction of the supravalvular aortic stenosis.s Elfin facies. It is important to be able to recognize the facies in this syndrome, as it remains the most overt expression of the disease complex.43 The facies is characterized by many of the following features, different combinations of which produce different variants of the same elfin appearance. The chief individual features include (1) wide epicanthic folds and a frequent convergent strabismus.27, 28,31136*44-48 The eyes are widely spaced and sometimes described as prominent and staring. 44 The inner third of the eyebrows of the has sometimes been reported missing.45 (2) There is underdevelopment bridge of the nose, causing it to appear pinched and upturned with the nostrils pointing forward. gr *7, 28p31,36,+ 46,48 (3) The upper lip is prominent and appears loose. The lip lacks the usual cupid’s bow, and the pars villosa may persist. The mouth is sometimes described as being large, wide, and asymmetrical and is generally kept open, the lower lip hanging slackly.“, 27,31,34,w 46-48Thus, the lips have a flabby, pouting appearance. 9 High arched palates have been described in some cases.3,7*25,44,4g (4) The temples are narrow,31, 4Gand the forehead is sometimes rounded and prominent49 o, 31,3fis45 (5) The chin is pointed and usually described as receding.4, 9s~3 28,31136,44s46,48 This recessive appearance has been attributed to a short mandibular body compared to the ramus and a larger than normal gonial angle. 5, 6s43,45 Prognathism, however, has been reported in several cases.4,5o The prominent forehead and receding chin cause the profiles of these infants to run downward and backward, and therefore the Frankfort plane does not even approximate a right angle with the profile.45 Very often heavy, pouting, drooping cheeks are seen, especially during the first 3 years of life.“, 9, 20,25 (6) The ears may be large and appear low set and prominent.4+ 9, 31s3B,44,45 Although they appear low, there is a normal relationship of the external auditory meatus with the base of the sku11.45The illusion of
Pig. 1. A and B, Three-montkold
white hoy demonstrating the typical elfin facies of early
life.
low-set ears is created by the typical extended or “chin-up” head position that these children adopt.:“, 4i This creates the appearance of a swan’s neck, often combined in males with a prominent Adam’s apple.3 Finally, a relative increase in the size of the pinna below the meatus mill make the ear appear low set.“;’ Other characteristics seen less frequently include a deep, metallic voice,5, $1,19,25 transient facial paralysis,27, 28,3fij4*, 51 reduced circumference of the skull, and occasional craniostenosis.2i’ 32sx, 44.4(i Most of the reports of the facies describe small children; however, the facial appearance changes somewhat with age. In the first years of life, the face is rounded, with a froglike appearance (Fig. 1, B and I?). From 6 to 8 years of a.ge the typical elfin face further develops as the frontal region becomes flat, the glabella becomes more prominent, the eyes are deep set, and the cheek bones arc more pronounced. In older persons, the nose is sharp and pointed, and all bony parts of the face are accentuated.” Although several earlier case reports had mentioned delayed Or& ammrnlies. eruption of teeth, 28,52 high caries rates,l, 35 and malaligned teeth,:, 35 Beuren and co-authors,” in 1964, first presented a detailed report on the dental anomalies of ten cases and considered the findings distinctive enough to constitute a definitive part of the syndrome. The most frequent dental anomalies described are generalized enamel hypoplasia, oligodontia, and microdontia.“, D,I37w ~3 oa,63-5S The enamel hypoplasia and hypocalcification possibly explain the gross tooth
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Fig. 8. Case 1, Patient A. J. W. A, Facial appearance of patient at 12 months of age. I? and C, Facial appearance at 7 years of age. D, Dentition at age 7 showing extensive caries. absence of upper E, Bitewing radiograph showing pulp stones, extensive caries, congenital second premolar, and abnormally small roots of deciduous molars. F, Cephalometric tracing.
decay that is usually seen in these patients. The microdontia seems to express itself primarily in the incisors, although Beuren and associates” and others13, 54 also reported a peculiar bud-shaped malformation of deciduous molars. Beuren postulated that this was eaused by convergence of the lateral surface of the tooth and was sometimes combined with marked reduction of the cusps formed from
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the hypoconium and the metaconium.” The roots of the permanent teeth have been reported to be small and slender.“, !’ Oligodontia is reported to affect both the deciduous and permanent dtntitions. In the deciduous dentition, lower incisors are sometimes congmitally missing,l” while in the permanent dentition the teeth reported missing are both the upper and lower lateral incisors,“’ 4Aupper and lower first and second prcmolar+ 43 and lower second molars. 43 Generally, more mandibular teeth are missing than maxillary teeth.5, 43 Other reported findings include invagination of upper permanent incisors,“, 5G small pulp chambers,““, 5npulp stones,‘“, In, lx, 5odelayed eruption of the deciduous dentition,“Rs 33,52,54numerous and pronounced buccal and labial frenula,!’ folded, edematous, and thickened buccal mucosa,!’ macrosto’mia,” and osteosclerotic changes and a thickening of the lamina dura, especially in the premolar and molar region.!’ Malocclusions usually involve an underdevelopment of the mandible, resulting in a Class II relationship with a tendency toward an obtuse gonial anglc.4z Also seen are a deep overbite and generalized malalignment of individual teeth.” Etiology
The etiology of the elfin facies syndrome is unknown. An excessive intake of vitamin I>, resulting in an excess absorption of calcium from the gut, was originally suggested as the causative factor of infantile hypcrca1cemia.“7-“” Vitamin I) intake, however, could not be the sole factor leading to the devclopment of this disorder because so many children likewise receiving high doses of vitamin I) did not develop the hypercalcemia. There are also many cases of the disease in which excess vitamin I> intake cannot be demonstrated. This suggests that an abnormal sensitivity to vitamin I) may exist, either as an extreme of the normal physiologic variation or as an inborn metabolic defect causing the hypercalcemia.S2, *I, .5’s50-‘i1 The association between hypercalcemia in infancy and supravalvular aortic stenosis is probably not one of direct cause and effect. The phenomenon may, instead, have a common cause which is, as yet, unidentified.“3 Each feature may be one component of a genetically determined multiple-system abnormality, or the total syndrome may stem from a derangement of vitamin I> metabolism.6” The cause of the facies is unknown. Russell and associates*g and otherP have suggested that it results in part from an abnormal growth of the basisphenoid. Histologically, the architecture of this bone is prcscrved in the sclerotic area and shows abnormal endochondral ossification.27, +-I When the syndrome was described with a characteristic facies, it was natural to look for a chromosomal anomaly comparable to that found in Down’s syndrome. With the exception of one case of a mosaic 19-20 reported in 1963,“’ all chromosome studies that have been done report normal karyotypes.5a 6, <‘,M-IS THREE CASE REPORTS WITH CASE
EMPHASIS
ON THE DENTAL
FINDINGS
1
A. J. TV., :L 7-year-old the University of Kentucky
white girl, was referred from the Pediatric Cardiology Medical Center for evaluation of her dental condition.
Clinic
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I. Cephalometric results in three cases
Table
Patients Measurement SNA (degrees) SNB (degrees) ANB (degrees) GoGo-SN (degrees) S-ANS (mm.) ANS-Gn (mm.) N-Gn (mm.) NPo-NB (mm.) NPo-F.H. (degrees) Y axis-F.H. (degrees) NA-APO (degrees)
Medical
1
Case 1-A. J. W. 80 73.5 7 46 41.0 70.0 107.0 -2.0 E.5 16
1
Ca.se 8-J. D. T. 78 75 3 45 42.0 70.0 108.0 -5.0 83 64 10
1
Case 3-B. D. A. 85 76.5 8 40 36.0 58.0 97.0 -4.0 74 74.5 19.5
history
At birth the patient was the 6 pound 11 ounce product of an uncomplicated term pregnancy. During the first 12 months of life, she experienced difficulties with feeding, anorexia, and some vomiting. This was diagnosed as “milk intolerance” and the patient was placed on special formulas. At 13 months of age (Fig. 2, a) she underwent a surgical procedure for relief of torticollis, at which time a systolic heart murmur was first noticed. When the child was 4 years old, cardiac catheterization revealed bilateral peripheral pulmonary artery stenosis, diffuse supravalvular aortic stenosis extending from the sinus of Valsalva to the right subclavian artery, and mild pulmonic stenosis. At the age of 6, she was first seen by the Pediatric Cardiology Department at the University of Kentucky Medical Center, and in view of the previous catheterization findings and the observation of mild mental retardation and a peculiar facies, she was diagnosed as having the elfin facie% syndrome. In spite of her rather severe cardiac condition, she has remained quite asymptomatic. Clinical
examination
The patient had typical elfin facies (Fig. 2, B and C), showing a prominent forehead, large, protruding ears, and rounded, drooping cheeks. The eyes demonstrated mild epicanthic folds and appeared widely spaced. The temples were narrow, and the mouth was wide, while the chin was pointed and receding. The nose was upturned, with forward-pointing nostrils and a depressed nasal bridge. Dental
examination
There were large carious lesions in all teeth except three deciduous canines and the four recently erupted lower permanent incisors (Fig. 2, D). The extensive decay in the deciduous dentition as well as the pattern of involvement on the permanent first molars indicated that enamel hypoplasia was most probably present. The size of the erupted teeth appeared to be within normal limits. A unilateral right posterior cross-bite was present, and the patient demonstrated what was thought to be a pseudo-Class III jaw relationship caused by adaptation to occlusal interference of the deciduous canines. With the exception of a fistulous tract from a pulpally involved upper deciduous incisor, the oral mucous membranes were within normal limits. Radiographic
examination
Periapical and Panorex radiographs revealed the bilateral congenital absence of maxillary second premolars. Multiple pulp stones or denticles were present in both deciduous and permanent teeth (Fig. 2, E). The roots of the deciduous molars appeared abnormally small, but it could not be determined whether this was caused by irregular formation or an acceleration of the resorptive process. The lamina dura appeared to be within normal limits. A cephalometric radiograph (Figure 2, P) revealed an ANB angle of 7 degrees, an NA-APO angle of 16 degrees, an SN-GoGn angle of 46 degrees, and a -2.0 mm. chin button (Table I).
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E’ig. 9. Case 2, Patient J. D. T. A and Z5, Facial appearance of pnticnt C, Dentition at age 6 showing extensive caries. D, Cephalometric tracing.
at 6 years of age.
CASE 2
J. D. T., a 6-year-old white boy, was referred from the Pediatric Cardiology Department of the University of Kentucky Medical Center for comprehensive dental treatment before a scheduled cardiac catheterization. Medical
history
At birth the patient was the 7 pound 3 ounce product of a normal full-term pregnancy and delivery. He was cyanotic at birth, and this was frequently aggravated when he cried. A harsh systolic murmur was discovered at his B-week checkup. At the age of 3 months he was noted to have a peculiar facies with webbing of the neck, prominent ears, and poor muscle control. The patient was unable to hold his head up until he was 9 months old, and he did not walk until he was 2 years old. His first teeth erupted at 7 to 8 months of age, and his parents noticed that they began to decay before 1 year of age. The neonatal period was characterized by (1) early periods of jaundice lasting until 6 weeks of age with no apparent complications, (2) respiratory difficulties characterized by cyanosis, nasal flaring, and sternal retractions, and (3) feeding difficulties, with frequent vomiting and occasional periods of constipation. He was bottle fed until the age of 3 to 4 years. The child has never been able to keep up with his peers in play or exercise. He has occasional temper tantrums but otherwise socializes well with his friends. He is frightened of strangers and is thought to be mildly to moderately mentally retarded. Cardiac catheterization at the age of 6 years revealed mild supravalvular aortic stenosis with no pulmonary stenosis.
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Fig. 4. Case 3, Patient B. D. A. 8, Facial appearance of patient at age of 6 months. B and C, Facial appearance at 3 years of age. D, Dentition at age 3 showing absence of lower deciduous incisor and uniform discoloration. E, Anterior mandibular radiograph showing congenital absence of deciduous and permanent incisors. F, Cephalometric tracing. Clinical
examinalion
The patient had a typical elfin facies (Fig. 3, B and G) with a prominent forehead, large, protruding ears, a depressed nasal bridge, an upturned nose with forward-pointing nostrils, a wide mouth and pouting lips, narrow temples, and a receding, pointed chin. No epicanthic folds or hypertelorism were demonstrated. Dental
examination
Severe dental caries was present in every tooth (Fig. 3, C). The location, extent, and pattern of decay indicated the probability that severe enamel hypoplasia was present before
Oral Hurg.
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examination
Panorex and periapical radiographs revealed a full complement of permanent and deciduous teeth with no observable abnormalities. The permanent tooth buds appeared uniformly small. The cephalometric radiograph (Fig. 3, U) revealed digital markings in the occipital region as well as a GoGn-Sn angle of 45 degrees, an ANB angle of 3 degrees, an NA-APO angle of 10 degrees, and a -5.0 mm. chin button (Table 1). CASE
3
H. 1). A., a 3-year-old white girl, was referred the University of Kentucky Medical Center for cardiac surgery. Medical
from the Pediat,ric Cardiology Clinic of comprehensive dental treatment before
history
pregnancy and At birth she \vas the 6 pound 1% ounce product of a normal full-term delivery (Fig. 4, A). Her mother recalled no feeding difficulties during the first year of life but tlid note frequent episodes of constipation and intermittent periods of cyanosis. At 1 year of age, a systolic heart murmur was discovered and the child was placed on Digoxin. The patient developed slowly and did not walk until she was 2 years of age. When evaluated she was found to have an 1.Q. of 54 and moderate to severe hearing loss bilaterally of unknown etiology. At present she speaks only a few words, plays by herself, and cannot keep up with her siblings in play or exercise. Cardiac catheterization revealed to no discrete area of stenosis but, rather, n minimal narrowing of the entire ascending root of the aorta. A patent ductus arteriosus was also discovered. Clinical
examination
The patient is a very small, apprehensive child with a typical elfin facies (Fig. 4, B and C). Her eyes demonstrate hypertelorism, a convergent strabismus, and wide epicanthic folds. She has a depressed nasal bridge and an upturned nose, with forward-pointing nostrils. Her forehead is rounded and prominent, and the chin is receding and pointed. She has an openmouth posture with a prominent loose upper lip and a slack, hanging lower lip which contributes to her pouting appearance. Her ears appear rather small. Dental
examination
Intraoral examination revealed a congenital absence of the lower deciduous incisor and a uniform yellow discoloration of the remaining deciduous teeth that was histologically confirmed to be caused by tetracycline staining (Fig. 4, D). The caries rate was moderate, and enamel hypoplasia was not evident. The occlusion demonstrated a menial step or Class I molar relationship. The size of all the erupted teeth appeared to be within normal limits. The only soft-tissue abnormality was ankyloglossia, which the parents report has heen unsuccessfully treated several times. Radiographic
examination
Panorex and periapical radiographs revealed the congenital absence of and a permanent lower incisor (Fig. 4, E) as well as the bilateral absence second premolars. The lamina dura, the deciduous molar root structure, and appeared to he within normal limits. The cephalometric radiograph (Fig. digital markings in the occipital region as well as a GoGn-Sn angle of 40 angle of 8 degrees, an NA-APO angle of 19.5 degrees, and a chin button of 1).
both a deciduous of the maxillary the tooth size all 4, P) revealed degrees, an ANB -4.0 mm. (Table
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DISCUSSION The elfin facies syndrome has not been described in the dental literature. For several reasons, however, the dentist should be familiar with the syndrome and the treatment implications. The single most important factor for the dentist to consider, if this syndrome is suspected, is that cardiac involvement should be ruled out before proceeding with dental treatment which might initiate a bacteremia and possibly induce bacterial endocarditis. The enamel hypoplasia and the mental and physical retardation may combine to make dental caries a significant problem for these children, and thus they frequently are referred for extensive dental treatment. The dentist should, therefore, be able to recognize the disease, counsel the parents on the importance of preventive dental care for the child’s over-all health, and initiate proper antibiotic prophylaxis before starting any dental treatment that would initiate a bacteremia.70 The most readily apparent characteristic of the syndrome is the facies. While authors agree that most facial characteristics are caused by alterations in the contours of soft tissues and thus probably are due to some genetic influence, certain features can be explained on the basis of underlying bony characteristics.27, 31,37 Early periods of hypercalcemia resulting in abnormally dense calcification of the cranial base could cause stenosis of some of the cranial sutures and synchondroses. Schlesinger and co-workersZ7 found abnormal calcification in the sphenoidal synchondroses at necropsy in one infant. The fact that some form of cranial stenosis has probably occurred is also demonstrated by the premature fusion of sutures of the cranial vault and by the presence of digital markings. These findings were seen in two of the patients reported in this article as well as in many other reports. A premature fusion of the sphenooccipital or spheno-ethmoidal synchondroses could result in an abnormal shortening of the cranial base which would be manifested as a depression of the nasal bridgeeG3 Cephalometric radiographs seem to indicate that the retrusive mandibular appearance is caused by a combination of four factors: a high ANB angle, a high angle of convexity (NA-APO), a high mandibular plane angle (SN-GoGn), and a negative chin button (NPo-NB). Each of the three patients that we studied had a large ANB angle and a large angle of convexity (NA-APO) consistent with a Class II skeletal relationship. The ANB angles ranged from 3 to 8 degrees, and the angle of convexity from 10 to 19.5 degrees. In addition to this, each of the patients had a steep mandibular plane angle (SN-GoGn), ranging from 40 to 46 degrees, and a negative chin button value (NPo-NB) that ranged from -2.0 mm. to -5.0 mm. (Table I). Severe enamel hypoplasia resulting in extensive dental decay was present in two of the three patients in our report. Oligodontia involving both deciduous and permanent, lower incisors and upper second premolars was also found in two patients. In view of the fact that both of these patients were less than 8 years old, the absence of premolars may represent retarded development rather
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than agenesis of the tooth germs. Other oral anomalies obscrrctl were pulp stones, ankyloglossia, microdontia, and abnormally small roots of deciduous molars. SUMMARY The elfin facies syndrome is a disorder of unknown etiology that consists of infantile hypercalcemia, mental retardation, cardiovascular anomalies, a peculiar elfin facies, and oral anomalies. All of the features of the disease have been reviewed, the implications of treatment have been discussed, and three case reports have been presented. REFERENCES
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63. Gray. Ii.: Textbook of Anatomv. ed. 30. Philadelahia. 1949. Lea & Febieer. u. 306. 64. Palmer, C. G.: Chromosome S&lies in Patient; &th Supravalvular ?&ic Stenosis, Lancet 2: 788-789, 1963. 65. Merritt, A. D., et al.: Supravalvular Aortic Stenosis: Genetic and Clinical Studies, J. Lab. Clin. Med. 62: 995, 1963. 66. Joseuh M. C.. et al.: Chromosome Studies in Patients with Sunravalvular Aortic Stenosis: Letter to Editor, Lancet 2: 788-789, 1963. With Hupravalvular Aortic 67. DeGrouchy, J., et al.: Chromosome Studies in Patients Stenosis; Letter to Editor, Lancet 2: 786-789, 1963. 68. Eberle, P., et al.: Chromosome Studies in Patients With Supravalvular Aortic Stenosis, Lancet 2: 438. 1963. 69. Palmer, C. G.; et al.: Supravalvular Aortic Stenosis : Genetic and Chromosomal Studies, Abstracts, Conference of American Eugenics Society, New York, July, 1963. 70. Sorenson, H. W.: The Pedodontic Patient With Heart Disease, Dent. Clin. North Am. 17: 173-186, 1973. Reprint requests to: Dr. John R. Kelly Department of Pedodontics The University of Kentucky College of Dentistry Lexington, Ky. 40506