The Neu‐Laxova syndrome—a distinct entity
- 1 January 1979
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 3 (3) , 261-267
- https://doi.org/10.1002/ajmg.1320030304
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.Keywords
This publication has 2 references indexed in Scilit:
- Atelencephalic MicrocephalyDevelopmental Medicine and Child Neurology, 1977
- A Lethal Syndrome of Microcephaly with Multiple Congenital Anomalies in Three SiblingsPediatrics, 1971