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Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21.

著者 Feigin E , Udassin R , Seror D , Szold A , Ben Neriah Z , Glick B
Clin Genet.1995 Jan ; 47(1):53-5.
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Department of Pediatric Surgery, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel.

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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.
PMID: 7774045 [PubMed - indexed for MEDLINE]
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