title: Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21.
abstract: The Antley-Bixler syndrome (ABS) is characterized by craniofacial, skeletal and urogenital anomalies. While most patients with ABS die of severe respiratory complications in their first months, long-term survivors have been reported. We report an infant girl, born to a consanguineous couple, with craniofacial and skeletal anomalies, consistent with ABS, in addition to atresia of the esophagus and trisomy 21.
authors.affiliation: Department of Pediatric Surgery, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Feigin
authors.forename: R
authors.initials: R
authors.lastname: Udassin
authors.forename: D
authors.initials: D
authors.lastname: Seror
authors.forename: A
authors.initials: A
authors.lastname: Szold
authors.forename: Z
authors.initials: Z
authors.lastname: Ben Neriah
authors.forename: B
authors.initials: B
authors.lastname: Glick
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D003241:Consanguinity; D004314:Down Syndrome / Q000235:genetics*; D004933:Esophageal Atresia / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014564:Urogenital Abnormalities