Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)

Am J Med Genet. 1988 Apr;29(4):909-15. doi: 10.1002/ajmg.1320290423.


We present a case of terminal del(22q) with Goldenhar complex including hemifacial microsomia, bilateral epibulbar dermoids, preauricular tags with sensorineural hearing loss, vertebral anomalies, and CNS and renal malformations. The case illustrates causal heterogeneity of the Goldenhar complex and a previously unreported associated chromosome deletion.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Goldenhar Syndrome / genetics*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Mandibulofacial Dysostosis / genetics*
  • Syndrome