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Compendium on sbortness of stature
February, 1968 The Journal o[ P E D I A T R I C S
295
Letters to the Editor
Compendium on sl~rtness of stature To the Editor: I read with interest the Compendium on shortness o[ stature (J. PEDIAT. 70 [part 2]: 463, 1967). Since this work attempts to present in a succinct form our present knowledge of this subject, I would like to make several comments with regard to some of the questions discussed by Dr. Smith. It has been apparent for a long time that any rigid definition of the range of variation of height which may be considered normal is not quite satisfactory. The limitations of such definitions whether they use percentiles or standard deviations are largely due to the fact that statural height is the result of the interaction of many genetic and environmental factors. Height variations falling outside the defined normal limits are frequently not pathological, despite the connotation of abnormality associated with such extreme variations. Dr. Smith tries to solve this problem by suggesting that patients whose height places them among the lower three percentiles of the population should be described as being "of short stature" rather than "dwarfs." This substitution of terms is objectionable in two respects. First of all the two terms do not have the same meaning. A dwarf is defined by the Concise Oxford Dictionary as an individual much below the ordinary size of the species. In plain speech, shortness of stature refers to less extreme variations, and a person may be short of stature without being a dwarf. A more important objection to the suggestion made by Dr. Smith is that the problem of describing statural variations is not solved by the introduction of a new term. This becomes evident in the Compendium in the need to qualify in some instances the term, "shortness of stature," with vague attributes such as "mild, . . . . moderate," or "variable." I would
like to suggest that while it may be preferable to exclude the term, "dwarf," from the medical terminology for the reasons presented by Dr. Smith, it may be better to use loosely the term, shortness of stature. It seems to me more meaningful to describe height variations associated with various clinical syndromes in terms of the average height and height variation range seen in each of these syndromes. The list of the syndromes included in the Compendium and the fact that equal attention has been given to all of them irrespective of their incidence suggests that a critical evaluation of these syndromes has been subordinated to the attempt to make the listing as complete as possible. This seems to me to be confirmed by at least two specific examples. One of them is the syndrome of the "bird-headed dwarfs." Seckel's description of the syndrome is based on the study of a heterogenous group of patients, 2 of whom were probably unrecognized instances of the Fanconi syndrome of multiple abnormalities and pancytopenia.1 The syndrome reported by Smith, Lemli, and Opitz, on the other hand, has many important features in common with the de Lange syndrome, and for this reason, I don't believe that these 2 syndromes can be distinguished with certainty. The Compendium omits a number of wellrecognized conditions associated with shortness of stature such as (1) microcephalia vera, (2) the Marinesco-Sjogren syndrome (congenital cataract, ataxia, and mental retardation), and (3) the dystrophic type of epidermolysis bullosa. Some syndromes which are less common or not so well documented and not mentioned in the symposium are: (4) achondrogenesis, (5) the "Russel dwarfs," featuring an apparently enlarged head, z and (6) the syndrome featuring mental deficiency, epilepsy, and endocrine abnormalities, with X-linked recessive inheritance described by Borgeson and associates. 3 It may also have been worth mentioning that several authors have reported that mentally retarded children in general have a shorter stature than normal children of their age. 4 Before concluding I would like to point out
Vol. 72, No. 2, pp. 295-297
2 96
Letters to the editor
the following concerning the data oil the de Lange syndrome and on the syndrome referred to as "Congenital blepharophimosis with generalized myopathy." From a review of the patients with de Lang syndrome reported in medical literature, there is evidence that this syndrome may be inherited not only as an autosomal-recessive characteristic as stated in the Compendium, but also according to an autosomal-dominant mode, with variable expressivity. There is also evidence that some patients with this syndrome feature slight chromosomal abnormalities. Concerning the "syndrome of congenital hlepharophimosis with generalized myopathy," it has been shown that its features are different from those originally reported making necessary a complete re-evaluation of the patients and of the syndrome(s). The two patients were found to have slight microphthalmus, generalized bone disease resulting in the abnormal development of facial skeleton, deformities of the vertebrae and thorax, and aseptic necrosis of the femoral head with generalized myotonia. One of the patients had testicular atrophy. The microscopic examination of the bone revealed changes reminiscent of those reported with the MorquioBrailsford syndrome. The pathological examination of the muscle tissue showed nonspecific abnormalities which included an increase in the amount of connective tissue. The autopsy perfomed on one of the patients showed no abnormality of the internal organs or of the central nervous system. 6 DONALD C. ABERFELD, M.D. CONEY ISLAND ItOSPITAL OCEAN AND S H O R E P A R K W A Y S
BROOKLYN, N. Y. 11235 REFERENCES 1. Lenz, W.: Humangenetik, Stuttgart, 1964, Georg Thieme Verlag, vol. 2, p. 63. 2. Szalay, G. C.: Pseudohydrocephalus in dwarfs: The Russell Dwarf, J. PEDIAT. 63: 622, 1963. 3. Borjeson, M., Forssman, H., and Lehmann, O.: An X-linked recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder, A. reed. seandinav. 171: 13, 1962. 4. Culley, W. J., and Jolly, D. H.: Heights and weights of mentally retarded children, Am. J. Ment. Deficiency 68: 203, 1963. 5. Lord Brain: Correspondence of the editor of Brain. 6. Aberfeld, D. C., Hinterbuchner, L. P., and Schneider, M.: Myotonia, dwarfism, bone disease, and unusual ocular and facial abnormalities (a new syndrome), Brain 88: 313, 1965.
The Journal o[ Pediatrics February 1968
Reply To the Editor: I shall reply in the same order which Dr. Aberfeld has presented his comments and questions. Shortness of stature is obviously a relative phenomenon. One should first reIate the stature of an individual to that of his parents, then the racial background when indicated, and lastly the general figures such as those of the anthropomettic charts of the Children's Medical Center, Boston. Since the first two comparisons would be inappropriate for a general "Compendium oll Shortness of Stature," the latter comparison was chosen and the criterion for inclusion was that the disorder be one in which stature below the third percentile is, or becomes, a usual feature. Obviously, there are degrees of shortness of stature and I would consider it wholly appropriate to refer loosely to a mild, moderate, or severe shortness of stature. I suppose severe shortness of stature could be equated with dwarfism, but what is your definition of dwarfism for a particular age other than severe shortness of stature, and how are you going to designate lesser degrees of shortness of stature? I agree with Dr. Aberfeld that it would be helpful to have charts of growth data for each syndrome; however this Compendium chiefly concerned with differential diagnosis among unusually short individuals. Finally, Dr. Aberfeld is concerned with introducing a new term, shortness of stature. This designation can hardly be considered a new terminology. The following statements pertain to definite or possible syndromes relative to Dr. Aberfeld's comments: 1. Seckers syndrome. The two cases reported by Seckel in his book on "Bird-headed dwarfs" and at least three of those cases reviewed in the book appear to be a specific entity, apparently autosomal recessive in etiology. It no longer seems appropriate to utilize the loose categorization of "birdheaded dwarf."
2. Smith-Lemli-Opitz versus Cornelia de Lange syndrome. Although there are similar anomalies as features of each of these syndromes, the total pattern of abnormal morphogenesis is quite different, as is evident in the Compendium. 3. Cornelia de Lange syndrome. The etiological designation as "autosomal recessive ( ? ) " in the Compendium was presumptuous and should better be stated as idiopathic
295
Letters to the Editor
Compendium on sl~rtness of stature To the Editor: I read with interest the Compendium on shortness o[ stature (J. PEDIAT. 70 [part 2]: 463, 1967). Since this work attempts to present in a succinct form our present knowledge of this subject, I would like to make several comments with regard to some of the questions discussed by Dr. Smith. It has been apparent for a long time that any rigid definition of the range of variation of height which may be considered normal is not quite satisfactory. The limitations of such definitions whether they use percentiles or standard deviations are largely due to the fact that statural height is the result of the interaction of many genetic and environmental factors. Height variations falling outside the defined normal limits are frequently not pathological, despite the connotation of abnormality associated with such extreme variations. Dr. Smith tries to solve this problem by suggesting that patients whose height places them among the lower three percentiles of the population should be described as being "of short stature" rather than "dwarfs." This substitution of terms is objectionable in two respects. First of all the two terms do not have the same meaning. A dwarf is defined by the Concise Oxford Dictionary as an individual much below the ordinary size of the species. In plain speech, shortness of stature refers to less extreme variations, and a person may be short of stature without being a dwarf. A more important objection to the suggestion made by Dr. Smith is that the problem of describing statural variations is not solved by the introduction of a new term. This becomes evident in the Compendium in the need to qualify in some instances the term, "shortness of stature," with vague attributes such as "mild, . . . . moderate," or "variable." I would
like to suggest that while it may be preferable to exclude the term, "dwarf," from the medical terminology for the reasons presented by Dr. Smith, it may be better to use loosely the term, shortness of stature. It seems to me more meaningful to describe height variations associated with various clinical syndromes in terms of the average height and height variation range seen in each of these syndromes. The list of the syndromes included in the Compendium and the fact that equal attention has been given to all of them irrespective of their incidence suggests that a critical evaluation of these syndromes has been subordinated to the attempt to make the listing as complete as possible. This seems to me to be confirmed by at least two specific examples. One of them is the syndrome of the "bird-headed dwarfs." Seckel's description of the syndrome is based on the study of a heterogenous group of patients, 2 of whom were probably unrecognized instances of the Fanconi syndrome of multiple abnormalities and pancytopenia.1 The syndrome reported by Smith, Lemli, and Opitz, on the other hand, has many important features in common with the de Lange syndrome, and for this reason, I don't believe that these 2 syndromes can be distinguished with certainty. The Compendium omits a number of wellrecognized conditions associated with shortness of stature such as (1) microcephalia vera, (2) the Marinesco-Sjogren syndrome (congenital cataract, ataxia, and mental retardation), and (3) the dystrophic type of epidermolysis bullosa. Some syndromes which are less common or not so well documented and not mentioned in the symposium are: (4) achondrogenesis, (5) the "Russel dwarfs," featuring an apparently enlarged head, z and (6) the syndrome featuring mental deficiency, epilepsy, and endocrine abnormalities, with X-linked recessive inheritance described by Borgeson and associates. 3 It may also have been worth mentioning that several authors have reported that mentally retarded children in general have a shorter stature than normal children of their age. 4 Before concluding I would like to point out
Vol. 72, No. 2, pp. 295-297
2 96
Letters to the editor
the following concerning the data oil the de Lange syndrome and on the syndrome referred to as "Congenital blepharophimosis with generalized myopathy." From a review of the patients with de Lang syndrome reported in medical literature, there is evidence that this syndrome may be inherited not only as an autosomal-recessive characteristic as stated in the Compendium, but also according to an autosomal-dominant mode, with variable expressivity. There is also evidence that some patients with this syndrome feature slight chromosomal abnormalities. Concerning the "syndrome of congenital hlepharophimosis with generalized myopathy," it has been shown that its features are different from those originally reported making necessary a complete re-evaluation of the patients and of the syndrome(s). The two patients were found to have slight microphthalmus, generalized bone disease resulting in the abnormal development of facial skeleton, deformities of the vertebrae and thorax, and aseptic necrosis of the femoral head with generalized myotonia. One of the patients had testicular atrophy. The microscopic examination of the bone revealed changes reminiscent of those reported with the MorquioBrailsford syndrome. The pathological examination of the muscle tissue showed nonspecific abnormalities which included an increase in the amount of connective tissue. The autopsy perfomed on one of the patients showed no abnormality of the internal organs or of the central nervous system. 6 DONALD C. ABERFELD, M.D. CONEY ISLAND ItOSPITAL OCEAN AND S H O R E P A R K W A Y S
BROOKLYN, N. Y. 11235 REFERENCES 1. Lenz, W.: Humangenetik, Stuttgart, 1964, Georg Thieme Verlag, vol. 2, p. 63. 2. Szalay, G. C.: Pseudohydrocephalus in dwarfs: The Russell Dwarf, J. PEDIAT. 63: 622, 1963. 3. Borjeson, M., Forssman, H., and Lehmann, O.: An X-linked recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder, A. reed. seandinav. 171: 13, 1962. 4. Culley, W. J., and Jolly, D. H.: Heights and weights of mentally retarded children, Am. J. Ment. Deficiency 68: 203, 1963. 5. Lord Brain: Correspondence of the editor of Brain. 6. Aberfeld, D. C., Hinterbuchner, L. P., and Schneider, M.: Myotonia, dwarfism, bone disease, and unusual ocular and facial abnormalities (a new syndrome), Brain 88: 313, 1965.
The Journal o[ Pediatrics February 1968
Reply To the Editor: I shall reply in the same order which Dr. Aberfeld has presented his comments and questions. Shortness of stature is obviously a relative phenomenon. One should first reIate the stature of an individual to that of his parents, then the racial background when indicated, and lastly the general figures such as those of the anthropomettic charts of the Children's Medical Center, Boston. Since the first two comparisons would be inappropriate for a general "Compendium oll Shortness of Stature," the latter comparison was chosen and the criterion for inclusion was that the disorder be one in which stature below the third percentile is, or becomes, a usual feature. Obviously, there are degrees of shortness of stature and I would consider it wholly appropriate to refer loosely to a mild, moderate, or severe shortness of stature. I suppose severe shortness of stature could be equated with dwarfism, but what is your definition of dwarfism for a particular age other than severe shortness of stature, and how are you going to designate lesser degrees of shortness of stature? I agree with Dr. Aberfeld that it would be helpful to have charts of growth data for each syndrome; however this Compendium chiefly concerned with differential diagnosis among unusually short individuals. Finally, Dr. Aberfeld is concerned with introducing a new term, shortness of stature. This designation can hardly be considered a new terminology. The following statements pertain to definite or possible syndromes relative to Dr. Aberfeld's comments: 1. Seckers syndrome. The two cases reported by Seckel in his book on "Bird-headed dwarfs" and at least three of those cases reviewed in the book appear to be a specific entity, apparently autosomal recessive in etiology. It no longer seems appropriate to utilize the loose categorization of "birdheaded dwarf."
2. Smith-Lemli-Opitz versus Cornelia de Lange syndrome. Although there are similar anomalies as features of each of these syndromes, the total pattern of abnormal morphogenesis is quite different, as is evident in the Compendium. 3. Cornelia de Lange syndrome. The etiological designation as "autosomal recessive ( ? ) " in the Compendium was presumptuous and should better be stated as idiopathic