Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family.
Am J Med Genet. 1987 Oct; 28(2):471-5.AJ

Abstract

We report on 2 brothers with severe manifestations of the whistling-face/windmill-vane-hand syndrome (also called "craniocarpotarsal dystrophy"; Freeman-Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrome and suggest existence of an autosomal or X-linked recessive form of this syndrome.

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Authors+Show Affiliations

Wang TR
Department of Pediatrics, National Taiwan University Hospital, College of Medicine, Taipei, Republic of China.
Lin SJ
No affiliation info available

MeSH

Abnormalities, MultipleChildChild, PreschoolChinaClubfootFaceHand Deformities, CongenitalHumansMaleSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3425620