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Am J Med Genet. 1987 Oct;28(2):471-5.

Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family.

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1
Department of Pediatrics, National Taiwan University Hospital, College of Medicine, Taipei, Republic of China.

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.

PMID:
3425620
DOI:
10.1002/ajmg.1320280224
[Indexed for MEDLINE]
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