Premium
Familial occurrence of an association of multiple intestinal atresia and choanal atresia: A new syndrome?
Author(s) -
Ferrarini Alessandra,
Osterheld MariaChiara,
Vial Yvan,
de Viragh Pierre A.,
Cotting Jacques,
Martinet Danielle,
Beckmann Jacques S.,
Fellmann Florence
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33132
Subject(s) - atresia , choanal atresia , intestinal atresia , gestation , medicine , pregnancy , fetus , obstetrics , anatomy , gastroenterology , pathology , biology , genetics
We report on two familial cases from a non‐consanguineous marriage, presenting multiple intestinal and choanal atresia. Massive hydramnios and dilatation of the bowel were observed at 29 weeks of gestation during routine ultrasound scan of a healthy mother. The fetal karyotype was normal and cystic fibrosis screening was negative. Regular scans were performed throughout the pregnancy. The child was born at 34 weeks gestation. Choanal atresia was diagnosed at birth and abdominal investigations showed multiple atresia interesting both the small bowel and the colon. Further interventions were necessary because of recurrent obstructions. During the following pregnancy, a dilatation of the fetal intestinal tract was detected by ultrasonography at 27 weeks of gestation. Pregnancy was interrupted. Post‐mortem examination of the fetus confirmed the stenosis of long segments of the small intestine associated with areas of colonic atresia. In both cases, histology and distribution were consistent with those reported in hereditary multiple intestinal atresia (HMIA). An association between multiple intestinal and choanal atresia has never been reported. We suggest it could correspond to a new autosomal recessive entity for which cytogenetic investigations and high‐resolution array CGH revealed no visible anomalies. © 2009 Wiley‐Liss, Inc.