Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX |
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Authors: | Rolle Udo Linse Barbara Glasow Simone Sandig Klaus Rainer Richter Thomas Till Holger |
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Institution: | Department of Paediatric Surgery, University of Leipzig, Leipzig, Germany. rolleu@medizin.uni-leipzig.de |
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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. |
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Keywords: | triple‐X syndrome duodenal atresia prenatal diagnosis polyhydramnion duodeno‐duodenostomy |
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