New case of the Richieri-Costa/Guion-Almeida syndrome

Am J Med Genet. 1999 Apr 23;83(5):419-21. doi: 10.1002/(sici)1096-8628(19990423)83:5<419::aid-ajmg15>3.0.co;2-l.

Abstract

We describe a boy with multiple congenital anomalies/mental retardation (MCA/MR) syndrome. He has growth retardation, microbrachycephaly, coloboma of the iris, and typical facial anomalies including cleft lip/palate. This phenotype overlaps with that described by Richieri-Costa and Guion-Almeida in three Brazilian brothers. The new patient provides further evidence of the existence of this rare clinical entity.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adolescent
  • Cleft Lip / diagnosis
  • Cleft Palate / diagnosis
  • Growth Disorders / diagnosis
  • Humans
  • Iris / abnormalities*
  • Male
  • Microcephaly / diagnosis
  • Phenotype
  • Syndrome