Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

Discussion The pathobiogenesis of hydranencephaly is incompletely understood and is attributed to vascular, infectious, or genetic etiology. Herein we present LAMB1 as a monogenic cause of fetal hydranencephaly which was incompatible with life. Previously, LAMB1-associated phenotype consisted of cobblestone lissencephaly and hydrocephalus, developmental delay, and seizures. Our proband expands the phenotypic spectrum of this malformative encephalopathy. [...] Thieme Medical Publishers, Inc. 333 Seventh Avenue, 18th Floor, New York, NY 10001, USAArticle in Thieme eJournals: Table of contents  |  Abstract  |  open access Full text

Source: American Journal of Perinatology Reports - February 1, 2021 Category: Perinatology & Neonatology Authors: Sen, Kuntal Kaur, Shagun Stockton, David W. Nyhuis, Mary Roberson, Jacquelyn Tags: Case Report Source Type: research