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American journal of medical genetics 1979

Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
Sábháiltear an nasc chuig an gearrthaisce
G I Lazjuk
I W Lurie
T I Ostrowskaja
E D Cherstvoy
I A Kirillova
M K Nedzved
S S Usoev

Keywords

Coimriú

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 Povysilova 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.

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* Tá an fhaisnéis uile bunaithe ar thaighde eolaíoch foilsithe

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