Multiple Pterygium Syndrome, X-Linked

Carnevale et al. (1973) observed a family with 7 cases of pterygium syndrome in 3 generations and suggested X-linked dominant inheritance because father-to-son transmission did not occur, and all 4 daughters but none of 4 sons of an affected male were affected. Against X-linked dominant inheritance was the fact that females were not more mildly affected than the 1 affected male in the pedigree.

Tolmie et al. (1987) described a prenatal lethal multiple pterygium syndrome occurring in 2 male sibs and a first cousin once removed connected through presumptively carrier females. Meyer-Cohen et al. (1999) described 4 male fetuses in 1 sibship with healthy nonconsanguineous parents and raised the question of an X-linked recessive subtype of lethal pterygium syndrome. In a review of the literature, the family reported by Tolmie et al. (1987) was the only one that strongly supported X-linked inheritance.