✦ LIBER ✦
Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family
✍ Scribed by Wang, Tso-Ren ;Lin, Shio-Jean ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 266 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.