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
Weinstein S, Gorlin RJ. Cranio-carpo-tarsal Dysplasia or The Whistling Face Syndrome: I. Clinical Considerations. Am J Dis Child. 1969;117(4):427–433. doi:10.1001/archpedi.1969.02100030429007
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: