title: Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome?
abstract: 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.
authors: Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors: Alessandra
authors: A
authors: Ferrarini
authors: Maria-Chiara
authors: MC
authors: Osterheld
authors: Yvan
authors: Y
authors: Vial
authors: Pierre A
authors: PA
authors: de Viragh
authors: Jacques
authors: J
authors: Cotting
authors: Danielle
authors: D
authors: Martinet
authors: Jacques S
authors: JS
authors: Beckmann
authors: Florence
authors: F
authors: Fellmann
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology* / Q000473:pathology*; D002754:Choanal Atresia / Q000150:complications* / Q000453:epidemiology*; D005190:Family; D005260:Female; D005333:Fetus / Q000002:abnormalities / Q000473:pathology; D006197:Hair / Q000002:abnormalities / Q000648:ultrastructure; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000150:complications* / Q000453:epidemiology* / Q000473:pathology; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome