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The Neu-Laxova syndrome—a distinct entity

✍ Scribed by Lazjuk, Gennady I. ;Lurie, Iosif W. ;Ostrowskaja, Teresa I. ;Cherstvoy, Eugeny D. ;Kirillova, Irena A. ;Nedzved, Michael K. ;Usoev, Sergei S. ;Optiz, John M.

Publisher
John Wiley and Sons
Year
1979
Tongue
English
Weight
428 KB
Volume
3
Category
Article
ISSN
0148-7299

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✦ Synopsis

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 a1 [ I ] , Laxova et a1 [ 21 and Povy&lova et a1 [ 3 I . 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.

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These cases share several major manifestations including intrauterine growth retardation (12/13), generalized edema (1 1/12), microcephaly (1 1/12), central nervous system abnormalities (9/9), and early death (13/13). Most mothers have had polyhydramnios (10/12), and a short cord was mentioned in si