Neu-laxova syndrome

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Neu-Laxova syndrome (NLS) is a rare autosomal recessive, lethal disorder. There are no formal diagnostic criteria for NLS. The most commonly described characteristics are intrauterine growth restriction, microcephaly, dysmorphic facies, central nervous system malformations, ichthyosis, and limb deformities. Studies have now suggested that the syndrome represents the severe end of the spectrum for serine deficiency disorders. Pregnancies at risk for Neu-Laxova or that have ultrasound findings consistent with the syndrome should be offered fetal diagnostic genetic testing. In pregnancies with Neu-Laxova that are continued, expectant management should be discussed with the parents to avoid unnecessary interventions, such as a cesarean section. Delivery usually occurs near term.

Original languageEnglish (US)
Title of host publicationObstetric Imaging
Subtitle of host publicationFetal Diagnosis and Care, 2nd Edition
PublisherElsevier
Pages562-564.e1
ISBN (Electronic)9780323445481
DOIs
StatePublished - Jan 1 2017

Keywords

  • Limb deformities
  • Microcephaly
  • Neu-laxova syndrome
  • Serine-deficiency disorders

ASJC Scopus subject areas

  • Medicine(all)

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