The Neu‐Laxova syndrome—a distinct entity

Abstract

Abstract We report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, syndactyly of toes and fingers, hypoplastic genitalia, and numerous structural changes of the brain and eyes. Similar cases have been reported by Neu et al [1], Laxova et al [2] and Povyšilova et al [3]. The above‐mentioned syndrome complex is a distinct genetic syndrome, for which we propose the eponym “the Neu‐Laxova syndrome.” Affected patients resemble each other strikingly and there is usually no doubt about the diagnosis. The Neu‐Laxova syndrome is apparently transmitted as an autosomal recessive trait.