Novel prenatally diagnosed compound heterozygous POMT2 variants in fetal congenital primary aqueduct stenosis

• Main Authors: Ju Chin Tsauer (Author), Jia Shing Chen (Author), Yu Ming Shiao (Author), Wei Shin Chou (Author), Yi Fen Chang (Author), Ching Hua Hsiao (Author)
• Format: Book
• Published: Elsevier, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To study the etiology of congenital hydrocephalus in genetic aqueduct stenosis. Case report: We report the case of a 31-year-old pregnant female, G2P0A1, with a history of hyperthyroidism under medical control. The patient received regular prenatal care, with no specific findings in the L...