Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype-Reference-Cited by-同舟云学术

Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype

Published:2023-11-14 Issue:13 Volume:43 Page:1666-1670
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Bourgon Nicolas¹²^ORCID,Chen Ruiqian³,Grangé Gilles⁴,Grotto Sarah³,Molac Clémence³,Loeuillet Laurence³,Attié‐Bitach Tania²³

Affiliation:

1. Service d'Obstétrique—Maternité, Chirurgie, Médecine et Imagerie fœtales Hôpitaux Universitaires Paris Centre Hôpital Necker—Enfants Malades AP‐HP Centre Paris France

2. INSERM UMR‐1163 Institut Imagine Université Paris Cité Paris France

3. Service de Médecine Génomique des Maladies Rares Hôpitaux Universitaires Paris Centre Hôpital Necker—Enfants Malades AP‐HP Centre Paris France

4. Department d’Obstétrique, Maternité de Port‐Royal Hôpitaux Universitaires Paris Centre Hôpital Cochin AP‐HP Centre Paris France

Abstract

AbstractNeu Laxova syndrome (NLS) is a rare and lethal congenital disorder characterized by severe intra‐uterine growth retardation (IUGR), ichthyosis, abnormal facial features, limb abnormalities with arthrogryposis and a wide spectrum of severe malformations of the central nervous system (CNS). NLS is due to biallelic variants in three genes previously involved in serine‐deficiency disorders (PHGDH, PSAT1 and PSPH), extending the phenotypic spectrum of these disorders.

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6463

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4. Second trimester diagnosis of Neu Laxova syndrome

5. Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis