Thickened Nuchal Translucency, Lymphangioma, and Ventriculomegaly: Prenatal Phenotypes for MSL2-Related Disorders.

Authors

Qinqin Xiang, Jing Wang, Mei Yang

Published in

Prenatal diagnosis. Volume 46. Issue 9. Pages 1498-1501. Epub Jul 04, 2026.

Abstract

What is already known about this topic? ◦. MSL2‐related developmental disorder is an autosomal dominant disorder characterized by developmental delay and impaired intellectual development with a high prevalence of motor disease, dysmorphisms, and psychiatric conditions, including autism spectrum disorder. What does this study add? ◦. This study reports a prenatal phenotype in a child with intellectual developmental delay who harbored a de novo variant in MSL2 gene. The prenatal characteristics included thickened nuchal translucency, lymhangioma, and ventriculomegaly, thereby expanding the phenotypic spectrum of MSL2‐related developmental disorder.

PMID:
42400431
Bibliographic data and abstract were imported from PubMed on 16 Sep 2026.

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