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

Author:

Bourgon Nicolas12ORCID,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

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