The Neu‐Laxova syndrome—a distinct entity

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 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.

The Neu‐Laxova syndrome: Comments on syndrome identification

“…However, in agreement with other investigators [Lazjuk et al, 1979;Winter et al, 19811, we included them because of the many important similarities to the other patients with this syndrome. One of the major defects is lack of development of the brain.…”

“…Only ten infants with the Neu-Laxova syndrome have been described [Neu et al, 1971;Laxova et al, 1972;Polvj%ilovB et al, 1976;Lazjuk et al, 1979;Winter et al, 19811. Polvgsilova et a1 [I9761 thought that their three infants probably did not …”

“…The Neu-Laxova syndrome, a rare lethal syndrome inherited as an autosomal recessive, is characterized by intrauterine growth retardation, severe microcephaly, short neck, flexion deformities, syndactyly, apparent edema, hypoplastic genitalia, and a characteristic facies [Neu et al, 1971;Laxova et al, 1972;Pov$silovB et al, 1976;Lazjuk et al, 1979;Winter et al, 19811. This report describes an infant with this syndrome.…”

Autosomal recessive microcephaly and micromelia in Cree Indians

“…Several syndromes share microcephaly and limb anomalies, (for instance the craniosynostosis-radial aplasia syndrome [ 11 , the SC phocomelia syndrome [ 2 ] , the Neu-Laxova syndrome [3], but the present condition seems quite distinct with intrauterine growth retardation and microcephaly so severe as to be incompatible with life.…”

A case of the Neu‐Laxova syndrome: Prenatal ultrasonographic monitoring in the third trimester and the histopathological findings

“…Although abnormalities of the external genitalia have been reported [Neu et al, 1971;Povysilova et al, 1976;Lazjuk et al, 1979;Seemanova et al, 19851, hypoplastic ovaries have not previously been reported and cannot be explained.…”