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Rolle, U; Linse, B; Glasow, S; Sandig, KR; Richter, T; Till, H.
Duodenal atresia in an infant with triple-X syndrome: A new associated malformation in 47,XXX
Birth Defects Res A Clin Mol Teratol. 2007; 79(8):612-613 Doi: 10.1002/bdra.20371 (- Case Report)
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Co-authors Med Uni Graz: Till Holger
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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 an-miotic fluid karyotype showed 47,XXX. After a scheduled delivery, duodenal atresia was confirmed and treated with duodeno-duo-denostomy. 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.
Find related publications in this database (using NLM MeSH Indexing): Adult -; Amniotic Fluid -; Chromosomes, Human, X -; Duodenum - abnormalities Duodenum - radiography Duodenum - surgery; Female -; Gestational Age -; Humans -; Infant, Newborn -; Intestinal Atresia - genetics Intestinal Atresia - pathology Intestinal Atresia - radiography; Karyotyping -; Ostomy -; Pregnancy -; Sex Chromosome Aberrations -; Treatment Outcome -; Ultrasonography, Prenatal -
Find related publications in this database (Keywords): triple-X syndrome; duodenal atresia; prenatal diagnosis; polyhydramnion; duodeno-duodenostomy