Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family.
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.
Department of Pediatrics, National Taiwan University Hospital, College of Medicine, Taipei, Republic of China.No affiliation info available MeSH
Abnormalities, MultipleChildChild, PreschoolChinaClubfootFaceHand Deformities, CongenitalHumansMaleSyndrome
Pub Type(s)
Case Reports
Journal Article