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Article

[Neu-Laxova syndrome: Three case reports and a review of the literature].

Annales de pathologie - 1 Aug 2016

Darouich Sihem, Boujelbene Nadia, Kehila Mehdi, Chanoufi Mohamed Badis, Reziga Hédi, Gaigi Soumeya, Masmoudi Aida

Abstract excerpt

INTRODUCTION: The Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early lethal disorder. It is characterized by severe intra-uterine growth retardation, abnormal facial features, ichthyotic skin lesions and severe central nervous system malformations, especially microlissencephaly. Others characteristic features associated with fetal hypokinesia sequence, including arthrogryposis, subcutaneous edema...

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Source

Identifiers

PMID: 27475004
DOI: 10.1016/j.annpat.2016.04.004

Genes

PHGDH
PSAT1
PSPH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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