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

• Main Authors: Kuntal Sen (Author), Shagun Kaur (Author), David W. Stockton (Author), Mary Nyhuis (Author), Jacquelyn Roberson (Author)
• Format: Book
• Published: Thieme Medical Publishers, Inc., 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...