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Case Reports
. 1995 Jan;47(1):53-5.
doi: 10.1111/j.1399-0004.1995.tb03922.x.

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

E Feigin  1 , R Udassin, D Seror, A Szold, Z Ben Neriah, B Glick
Affiliations
Case Reports

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

E Feigin et al. Clin Genet. 1995 Jan.

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.

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Comment in

  • Antley-Bixler syndrome.
    Mattina T, Pierluigi M, Perfumo C, Mazzone D, Scardilli S, Mollica F. Mattina T, et al. Clin Genet. 1996 Oct;50(4):277. doi: 10.1111/j.1399-0004.1996.tb02646.x. Clin Genet. 1996. PMID: 9001819 No abstract available.

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