Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly

Abstract

Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver. These findings were first noted by prenatal ultrasound and may assist in prenatally diagnosing additional cases of Carpenter syndrome.

Keywords: Carpenter syndrome; craniosynostosis; defect of lateralization; heterotaxy; intestinal malrotation; ovarian cyst; polysyndactyly.