title: Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies.
abstract: Oesophageal atresia usually occurs without any genetic background. Three cases associated with Fanconi's anaemia are reported. One neonate had growth retardation and numerous malformations including oesophageal atresia and four other components of the VACTERL association. In the two others, oesophageal atresia was isolated. In patients with such malformations an early diagnosis of Fanconi's anaemia may have important genetic and therapeutic implications.
authors.affiliation: Department of Paediatrics, Children's Hospital, Groupe Hospitalier Pellegrin, Bordeaux, France.
authors.forename: Y
authors.initials: Y
authors.lastname: Perel
authors.forename: O
authors.initials: O
authors.lastname: Butenandt
authors.forename: A
authors.initials: A
authors.lastname: Carrere
authors.forename: R
authors.initials: R
authors.lastname: Saura
authors.forename: M
authors.initials: M
authors.lastname: Fayon
authors.forename: T
authors.initials: T
authors.lastname: Lamireau
authors.forename: P
authors.initials: P
authors.lastname: Vergnes
mesh_terms: D004933:Esophageal Atresia / Q000209:etiology*; D005199:Fanconi Anemia / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male