ANTLEY-BIXLER SYNDROME AND ESOPHAGEAL ATRESIA IN A PATIENT WITH TRISOMY-21

Authors
FEIGIN E UDASSIN R SEROR D SZOLD A NERIAH ZB GLICK B
Citation
E. Feigin et al., ANTLEY-BIXLER SYNDROME AND ESOPHAGEAL ATRESIA IN A PATIENT WITH TRISOMY-21, Clinical genetics, 47(1), 1995, pp. 53-55
Citations number
8
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
47
Issue
1
Year of publication
1995
Pages
53 - 55
Database
ISI
SICI code
0009-9163(1995)47:1<53:ASAEAI>2.0.ZU;2-N
Abstract
The Antley-Bixler syndrome (ABS) is characterized by craniofacial, ske letal and urogenital anomalies. While most patients with ABS die of se vere respiratory complications in their first months, long-term surviv ors have been reported. We report an infant girl, born to a consanguin eous couple, with craniofacial and skeletal anomalies, consistent with ABS, in addition to atresia of the esophagus and trisomy 21.