Family with probable achondrogenesis and lipid inclusions in fibroblasts

Abstract

Three stillborn sibs, two males and a female, with probable achondrogenesis, whose parents are first cousins, are reported.

Fibroblast cultures revealed numerous large intracellular lipid inclusions in the two stillborns, which were available for investigation, and these were found to a lesser degree in the mother. No similar inclusions were detected in cultured amniotic cells from a 16-week pregnancy which eventually terminated in the term birth of a healthy female.

The importance of a correct diagnosis and implications for genetic counselling are discussed.