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

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

Research output: Contribution to journalArticle

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

Fingerprint

Coloboma
Cleft Lip
Cleft Palate
Iris
Intellectual Disability
Siblings
Phenotype
Growth
Richieri Costa Guion-Almeida syndrome

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

New case of the Richieri-Costa/Guion-Almeida syndrome. / Natacci, F.; Pierri, M.; Rossetti, M.; Sala, M.; Larizza, Lidia.

In: American Journal of Medical Genetics, Vol. 83, No. 5, 23.04.1999, p. 419-421.

Research output: Contribution to journalArticle

Natacci, F. ; Pierri, M. ; Rossetti, M. ; Sala, M. ; Larizza, Lidia. / New case of the Richieri-Costa/Guion-Almeida syndrome. In: American Journal of Medical Genetics. 1999 ; Vol. 83, No. 5. pp. 419-421.
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