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: Second Edition
PublisherElsevier Inc.
Pages562-564.e1
ISBN (Electronic)9780323497367
ISBN (Print)9780323445481
DOIs
StatePublished - Sep 13 2017

Fingerprint

Nervous System Malformations
Ichthyosis
Pregnancy
Microcephaly
Genetic Testing
Cesarean Section
Serine
Extremities
Central Nervous System
Growth
Neu Laxova syndrome

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Longman, R. E. (2017). Neu-Laxova Syndrome. In Obstetric Imaging: Fetal Diagnosis and Care: Second Edition (pp. 562-564.e1). Elsevier Inc.. https://doi.org/10.1016/B978-0-323-44548-1.00134-0

Neu-Laxova Syndrome. / Longman, Ryan E.

Obstetric Imaging: Fetal Diagnosis and Care: Second Edition. Elsevier Inc., 2017. p. 562-564.e1.

Research output: Chapter in Book/Report/Conference proceedingChapter

Longman, RE 2017, Neu-Laxova Syndrome. in Obstetric Imaging: Fetal Diagnosis and Care: Second Edition. Elsevier Inc., pp. 562-564.e1. https://doi.org/10.1016/B978-0-323-44548-1.00134-0
Longman RE. Neu-Laxova Syndrome. In Obstetric Imaging: Fetal Diagnosis and Care: Second Edition. Elsevier Inc. 2017. p. 562-564.e1 https://doi.org/10.1016/B978-0-323-44548-1.00134-0
Longman, Ryan E. / Neu-Laxova Syndrome. Obstetric Imaging: Fetal Diagnosis and Care: Second Edition. Elsevier Inc., 2017. pp. 562-564.e1
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