一名患有三X综合征婴儿的十二指肠闭锁：47,XXX的一种新的相关畸形。
Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX.
作者信息
Rolle Udo, Linse Barbara, Glasow Simone, Sandig Klaus Rainer, Richter Thomas, Till Holger
机构信息
Department of Paediatric Surgery, University of Leipzig, Leipzig, Germany.
出版信息
Birth Defects Res A Clin Mol Teratol. 2007 Aug;79(8):612-3. doi: 10.1002/bdra.20371.
BACKGROUND
An association between the triple-X syndrome (47,XXX) and gastrointestinal malformations is extremely rare. Most 47,XXX patients present with a normal phenotype, but genitourinary malformations have been described.
CASE
We report a case of a child with 47,XXX and duodenal atresia. Antenatal ultrasound scan showed a dilated fetal stomach and upper part of the duodenum (double bubble phenomenon) at 31 weeks of gestation in a 31-year-old woman with polyhydramnion. The amniotic fluid karyotype showed 47,XXX. After a scheduled delivery, duodenal atresia was confirmed and treated with duodeno-duodenostomy.
CONCLUSIONS
The possible association of gastrointestinal and genitourinary tract anomalies requires a detailed postnatal clinical investigation and ultrasonographic examination of the abdomen, retroperitoneum, and pelvis on all triple-X syndrome patients.
背景
XXX综合征（47，XXX）与胃肠道畸形之间的关联极为罕见。大多数47，XXX患者表现出正常的表型，但已发现存在泌尿生殖系统畸形。
病例
我们报告一例患有47，XXX且伴有十二指肠闭锁的患儿。产前超声扫描显示，一名31岁羊水过多的孕妇在妊娠31周时，胎儿胃部和十二指肠上部扩张（双泡征）。羊水核型显示为47，XXX。经顺产分娩后，确诊为十二指肠闭锁，并接受了十二指肠十二指肠吻合术治疗。
结论
对于所有XXX综合征患者，胃肠道和泌尿生殖道异常的可能关联需要进行详细的产后临床检查以及腹部、腹膜后和骨盆的超声检查。
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