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


METHODS
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.
Rolle
Udo
U
Department of Paediatric Surgery, University of Leipzig, Leipzig, Germany. rolleu@medizin.uni-leipzig.de
Linse
Barbara
B
Glasow
Simone
S
Sandig
Klaus Rainer
KR
Richter
Thomas
T
Till
Holger
H
D000328:Adult; D000653:Amniotic Fluid; D041321:Chromosomes, Human, X; D004386:Duodenum / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D010030:Ostomy; D011247:Pregnancy; D011859:Radiography; D012729:Sex Chromosome Aberrations; D016896:Treatment Outcome; D016216:Ultrasonography, Prenatal