The Neu‐Laxova syndrome: Comments on syndrome identification

Abstract

We describe an infant with the Neu-Laxova syndrome. Some new guidelines for syndrome identification are presented, using this syndrome as an example.

Neu Laxova syndrome in two Egyptian families

“…Lazjuk et al [1979] noted a stillborn girl similarly affected and proposed the eponym. The total number of reported cases is around 27, 18 females and 9 males [Neu et al, 1971;Laxova et al, 1972;Povysilova et al, 1976;Lazjuk et al, 1979;Scott et al, 1981;Fitch et al, 1982;Mueller et al, 1983;Turkel et al, 1983;Paes et al, 1985;Nejad et al, 1987;Tolmie et al, 1987;Ostrovskaya and Lazjuk, 1988;Manjunath and Sreenivas, 19903. Here we report our observations of NLS in Egyptians.…”

Evaluation of a Fetus with Neu-Laxova Syndrome through Prenatal, Clinical, and Pathological Findings

“…In our case, edema was prominent in the knee joints. In terms of CNS findings, microcephaly and lissencephaly were prominent in our case which were common almost in all fetuses diagnosed with NLS in the literature [5][6][7]. Absent eyelid is one of the major features of NLS differentiating it from some other syndromes.…”

“…Sonographic differentiation of NLS is usually difficult from such syndromes. However, specific findings such as face appearance, severe microcephaly and central neuronal system abnormalities and absent eyelids are specific sonographic features to differentiate NLS from other syndromes [5,6,8]. At postmortem examination, ichthyosis is the main finding differentiating NLS from other syndromes.…”

Cerebro‐osseous‐digital syndrome: Four new cases of a lethal skeletal dysplasia—distinct from Neu‐Laxova syndrome

“…Chromosomes have been reported as normal on all patients studied. It is presumed to follow autosomal recessive inheritance, and consanguinity has been reported [Laxova et al, 1972;Posysilova et al, 1976;Fitch et al, 1982;Mueller et al, 1983;Karimi-Nejad et al, 1987;Tolmie et al, 1987;Russo et al, 1989;Naveed and Sreenivas, 1990;Meguid and Temtamy, 1991;Shapiro et al, 1992;Kuseyri et al, 1993]. The gene(s) is not known, and there is currently no biochemical assay available to determine affected individuals or heterozygotes.…”

“…These patients also showed severe microtia. Fitch et al [1982] felt that patients 1 and 2 of Scott et al [1981] were not typical of NLS due to the fact that they lacked microcephaly, flexion deformities, microphthalmia, and scaly skin. Mueller et al [1983] agreed that patients 1 and 2 described by Scott et al [1981] constituted a distinct entity.…”