NEU-LAXOVA SYNDROME - DISTINCT ENTITY

The authors report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, syndactyly of toes and finger, hypoplastic genitalia, and numerous structural changes of the brain and eyes. The above-mentioned syndrome complex is a distinct genetic syndrome, for which the authors 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.