Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Am J Med Genet A. 2014 Mar;164A(3):820-3. doi: 10.1002/ajmg.a.36362. Epub 2014 Jan 23.
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.
Carpenter 综合征是一种常染色体隐性遗传病，包括颅缝早闭、并指（趾）和短指（趾）畸形。每 100 万例出生中约有 1 例。我们报告了 1 例 Carpenter 综合征患者（通过分子诊断证实），该患者具有一些独特的、以前未报道过的表现，包括大的卵巢囊肿和内脏异位症伴胃、肠和肝旋转不良。这些发现最初是通过产前超声检查发现的，可能有助于产前诊断其他 Carpenter 综合征病例。
