Genetics Corner: X-linked ZC4H2-Associated Rare Disorder in a Female with Arthrogryposis Multiplex Congenita.

The article describes the case of a one-day-old female born at term with arthrogryposis multiplex congenita evaluated by the Pediatric Genetics service after whole exome sequencing on amniocentesis identified a de novo pathogenic ZC4H2 variant associated with ZC4H2-related neurodevelopmental disorder with multiple congenital anomalies. Topics include pregnancy complication suffered by the infant's mother, findings on echocardiogram, and characteristics of ZC4H2-associated disorders.