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Cranio-carpo-tarsal Dysplasia or The Whistling Face Syndrome: I. Clinical Considerations

Cranio-carpo-tarsal Dysplasia or The Whistling Face Syndrome: I. Clinical Considerations Abstract IN 1938, Freeman, an orthopedic surgeon, and Sheldon, a pediatrician, described two children with microsomia, increased philtrum length, small nose and nostrils, flattening of facial bones, deep set eyes, ocular hypertelorism, epicanthus, ulnar deviation of the hands without bony abnormality, finger contractures, and bilateral talipes equinovarus.1 They employed the term "cranio-carpo-tarsal dystrophy" to describe the syndrome. Otto,2 in 1953, and Külz,3 in 1961, each described a similar case and, cognizant of the earlier report by Freeman and Sheldon, continued to use the same term as well as the eponym, Freeman-Sheldon syndrome. In 1963, Burian,4 a Czechoslovakian plastic surgeon, apparently unaware of the other reports, described what he called the "whistling face" or "cranio-facio-corporal" syndrome in four children. Unfortunately, the children were not described in detail. Examination of his published photographs, however, would certainly suggest that this is the same condition described by the other authors (Fig References 1. Freeman, E.A., and Sheldon, J.H.: Cranio-carpo-tarsal Dystrophy: An Undescribed Congenital Malformation . Arch Dis Child 13:277-283 ( (Oct) ) 1938.Crossref 2. Otto, F.M.G.: Die "Cranio-Carpo-Tarsal Dystrophie" (Freeman and Sheldon), Ein kasuistischer Beitrag , Z Kinderheilk 73:240-250 ( (June) ) 1953.Crossref 3. Külz, J.: Das Freeman-Sheldon-Syndrom , Med Bild 4:79-81 ( (Feb) ) 1961. 4. Burian, F.: The "Whistling Face" Characteristic in a Compound Cranio-facio-corporal Syndrome , Brit J Plast Surg 16:140-163 ( (May) ) 1963.Crossref 5. Otto, F.M.G., and Rademacher, M.: Wissenschaftliche Ausstellung, 59 Tagung der Deutscheh Gesellschaft für Kinderheilkunde, Kassel, Germany, 1960. 6. Temtamy, S.A.: Genetic Factors in Hand Malformations, thesis, The Johns Hopkins University, Baltimore, 1966. 7. Rubin, P.: Dynamic Classification of Bone Dysplasias , Chicago: Year Book Medical Publishers, Inc., 1964. 8. Walker, B.A.: "Craniocarpotarsal Dystrophy," First Conference on the Clinical Delineation Birth Defects, The Johns Hopkins Hospital, Baltimore, May 20-28, 1968, pp 26-37. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Cranio-carpo-tarsal Dysplasia or The Whistling Face Syndrome: I. Clinical Considerations

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Publisher
American Medical Association
Copyright
Copyright © 1969 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1969.02100030429007
Publisher site
See Article on Publisher Site

Abstract

Abstract IN 1938, Freeman, an orthopedic surgeon, and Sheldon, a pediatrician, described two children with microsomia, increased philtrum length, small nose and nostrils, flattening of facial bones, deep set eyes, ocular hypertelorism, epicanthus, ulnar deviation of the hands without bony abnormality, finger contractures, and bilateral talipes equinovarus.1 They employed the term "cranio-carpo-tarsal dystrophy" to describe the syndrome. Otto,2 in 1953, and Külz,3 in 1961, each described a similar case and, cognizant of the earlier report by Freeman and Sheldon, continued to use the same term as well as the eponym, Freeman-Sheldon syndrome. In 1963, Burian,4 a Czechoslovakian plastic surgeon, apparently unaware of the other reports, described what he called the "whistling face" or "cranio-facio-corporal" syndrome in four children. Unfortunately, the children were not described in detail. Examination of his published photographs, however, would certainly suggest that this is the same condition described by the other authors (Fig References 1. Freeman, E.A., and Sheldon, J.H.: Cranio-carpo-tarsal Dystrophy: An Undescribed Congenital Malformation . Arch Dis Child 13:277-283 ( (Oct) ) 1938.Crossref 2. Otto, F.M.G.: Die "Cranio-Carpo-Tarsal Dystrophie" (Freeman and Sheldon), Ein kasuistischer Beitrag , Z Kinderheilk 73:240-250 ( (June) ) 1953.Crossref 3. Külz, J.: Das Freeman-Sheldon-Syndrom , Med Bild 4:79-81 ( (Feb) ) 1961. 4. Burian, F.: The "Whistling Face" Characteristic in a Compound Cranio-facio-corporal Syndrome , Brit J Plast Surg 16:140-163 ( (May) ) 1963.Crossref 5. Otto, F.M.G., and Rademacher, M.: Wissenschaftliche Ausstellung, 59 Tagung der Deutscheh Gesellschaft für Kinderheilkunde, Kassel, Germany, 1960. 6. Temtamy, S.A.: Genetic Factors in Hand Malformations, thesis, The Johns Hopkins University, Baltimore, 1966. 7. Rubin, P.: Dynamic Classification of Bone Dysplasias , Chicago: Year Book Medical Publishers, Inc., 1964. 8. Walker, B.A.: "Craniocarpotarsal Dystrophy," First Conference on the Clinical Delineation Birth Defects, The Johns Hopkins Hospital, Baltimore, May 20-28, 1968, pp 26-37.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Apr 1, 1969

References