Pectus Excavatum, Macrocephaly, Short Stature, And Dysplastic Nails

Clinical Features

Zori et al. (1992) described a family in which several members had relative macrocephaly, pectus excavatum, short stature, dysplastic nails, and developmental delay that was primarily motor and resolved during childhood. There was one instance of male-to-male transmission. The father, who was judged to be affected, was 172 cm tall (25th percentile) with a head circumference of 58 cm (98th percentile). He had pectus excavatum and small dysplastic nails on his toes.

Inheritance

Male-to-male transmission in the family reported by Zori et al. (1992) suggested autosomal dominant inheritance.