Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21.
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.
Feigin
E
E
Department of Pediatric Surgery, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel.
Udassin
R
R
Seror
D
D
Szold
A
A
Ben Neriah
Z
Z
Glick
B
B
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