期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 164, 期 3, 页码 820-823出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36362
关键词
Carpenter syndrome; craniosynostosis; ovarian cyst; intestinal malrotation; heterotaxy; defect of lateralization; 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. (c) 2014 Wiley Periodicals, Inc.
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