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

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


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Bone and Bones / abnormalities
  • Consanguinity
  • Down Syndrome / genetics*
  • Esophageal Atresia / genetics*
  • Facial Bones / abnormalities
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Skull / abnormalities
  • Syndrome
  • Urogenital Abnormalities