Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family.
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.
Wang
T R
TR
Department of Pediatrics, National Taiwan University Hospital, College of Medicine, Taipei, Republic of China.
Lin
S J
SJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D003025:Clubfoot / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D013577:Syndrome