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

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.