PEDIATRICS Vol. 47 No. 6 June 1971, pp. 1064-1067
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Familial Occurrence of the Freeman-Sheldon Syndrome: Cranio-carpo-tarsal Dysplasia

Eva Gross-Kieselstein M.D.1, Abraham Abrahamov M.D.1, and Nahum Ben-Hur M.D., F.A.C.S.2

1 Department of Pediatrics B Bikur Cholim Hospital Jerusalem, Israel
2 Department of Plastic and Maxillofacial Surgery Shaare Zedek General Hospital Jerusalem, Israel

Freeman and Sheldon syndrome known as "cranio-carpo-tarsal displasia" or "Whistling face" deformity is described in a mother and daughter. The inheritance suggests an autosomal dominant trait.




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P. MacLeod and H. Patriquin
The Whistling Face Syndrome-- Cranio-Carpo-Tarsal Dysplasia: Report of a Case and a Survey of the Literature
Clinical Pediatrics, February 1, 1974; 13(2): 184 - 189.
[Abstract] [PDF]