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

G E Herman; F Greenberg; D H Ledbetter

doi:10.1002/ajmg.1320290423

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.

Authors

G E Herman¹, F Greenberg, D H Ledbetter

Affiliation

¹ Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas.

PMID: 3400736
DOI: 10.1002/ajmg.1320290423

Abstract

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