Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.
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.
Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Anna S
AS
Victorine
Jennifer
J
Weida
Karrie A
KA
Hines
Barrett
B
Robinson
Wilfredo
W
Torres-Martinez
David D
DD
Weaver
D000168:Acrocephalosyndactylia / Q000175:diagnosis*; D000328:Adult; D003398:Craniosynostoses; D005260:Female; D006801:Humans; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013576:Syndactyly; D016216:Ultrasonography, Prenatal
Carpenter syndrome; craniosynostosis; defect of lateralization; heterotaxy; intestinal malrotation; ovarian cyst; polysyndactyly