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April 1969

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

Author Affiliations

Omaha; Minneapolis
From the Department of Orthodontics, University of Nebraska, Omaha (Dr. Weinstein) and the Division of Oral Pathology, University of Minnesota, Minneapolis (Dr. Gorlin).

Am J Dis Child. 1969;117(4):427-433. doi:10.1001/archpedi.1969.02100030429007

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