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

Birth defects research. A Clinical and molecular teratology, 2007-08, Vol.79 (8), p.612-613 [Peer Reviewed Journal]

Copyright © 2007 Wiley‐Liss, Inc. ;2007 Wiley-Liss, Inc. ;ISSN: 1542-0752 ;EISSN: 1542-0760 ;DOI: 10.1002/bdra.20371 ;PMID: 17469201

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Title:
Duodenal atresia in an infant with triple‐X syndrome: A new associated malformation in 47,XXX
Author: Rolle, Udo ; Linse, Barbara ; Glasow, Simone ; Sandig, Klaus Rainer ; Richter, Thomas ; Till, Holger
Subjects: Adult ; Amniotic Fluid ; Chromosomes, Human, X ; duodenal atresia ; duodeno‐duodenostomy ; Duodenum - abnormalities ; Duodenum - diagnostic imaging ; Duodenum - surgery ; Female ; Gestational Age ; Humans ; Infant, Newborn ; Intestinal Atresia - diagnostic imaging ; Intestinal Atresia - genetics ; Intestinal Atresia - pathology ; Karyotyping ; Ostomy ; polyhydramnion ; Pregnancy ; prenatal diagnosis ; Radiography ; Sex Chromosome Aberrations ; Treatment Outcome ; triple‐X syndrome ; Ultrasonography, Prenatal
Is Part Of: Birth defects research. A Clinical and molecular teratology, 2007-08, Vol.79 (8), p.612-613
Description: 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.
Publisher: Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Language: English
Identifier: ISSN: 1542-0752
EISSN: 1542-0760
DOI: 10.1002/bdra.20371
PMID: 17469201
Source: MEDLINE
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