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

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

Case Report A 32-year-old female with a history of three prior pregnancy losses presented for genetic testing following an ultrasonography diagnosis of fetal hydranencephaly. Baby was born via C-section and was noted to have a head circumference of 48 cm, in addition to ocular and cardiac anomalies...

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Bibliographic Details
Main Authors: Kuntal Sen, Shagun Kaur, David W. Stockton, Mary Nyhuis, Jacquelyn Roberson
Format: Article
Language:English
Published: Thieme Medical Publishers, Inc. 2021-01-01
Series:American Journal of Perinatology Reports
Subjects:
hydranencephaly
lamb1
α-dystroglycanopathy
whole genome sequencing
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1722728

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