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.
New case of the Richieri-Costa/Guion-Almeida syndrome / F. Natacci, M. Pierri, M. Rossetti, M. Sala, L. Larizza. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - 83:5(1999 Apr 23), pp. 419-21-421. [10.1002/(SICI)1096-8628(19990423)83:5<419::AID-AJMG15>3.0.CO;2-L]
New case of the Richieri-Costa/Guion-Almeida syndrome
L. Larizza
1999
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.
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