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

F. Natacci, M. Pierri, M. Rossetti, M. Sala, Lidia Larizza

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)419-421
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume83
Issue number5
DOIs
Publication statusPublished - Apr 23 1999

Keywords

  • Cleft lip-palate
  • Iris coloboma
  • Mental retardation
  • Microbrachycephaly
  • Richieri-Costa/Guion-Almeida syndrome
  • Short stature

ASJC Scopus subject areas

  • Genetics(clinical)

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