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.