Duodenal atresia in an infant with triple-X syndrome: A new associated malformation in 47,XXX

✍ Scribed by Udo Rolle; Barbara Linse; Simone Glasow; Klaus Rainer Sandig; Thomas Richter; Holger Till

• Publisher: John Wiley and Sons
• Year: 2007
• Tongue: English
• Weight: 54 KB
• Volume: 79
• Category: Article
• ISSN: 1542-0752
• DOI: 10.1002/bdra.20371

✦ Synopsis

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.