CATCH 22 Syndrome

J Craniofac Surg. 2002 Sep;13(5):623-6. doi: 10.1097/00001665-200209000-00005.

Abstract

CATCH 22 syndrome is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. It results from a deletion within chromosome 22q11. This syndrome is not a simple disease. It includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. The authors report two cases of CATCH 22 syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • Cleft Palate / genetics
  • Diagnosis, Differential
  • Facies*
  • Female
  • Heart Defects, Congenital / genetics
  • Humans
  • Hypocalcemia / genetics
  • Infant, Newborn
  • Syndrome
  • Thymus Gland / abnormalities