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- W2024161776 abstract "Abstract 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. Birth Defects Research (Part A) 2007. © 2007 Wiley‐Liss, Inc." @default.
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- W2024161776 date "2007-08-01" @default.
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- W2024161776 title "Duodenal atresia in an infant with triple-X syndrome: A new associated malformation in 47,XXX" @default.
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- W2024161776 doi "https://doi.org/10.1002/bdra.20371" @default.
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