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New case of the Richieri-Costa/Guion-Almeida syndrome
F Natacci1, M Pierri, M Rossetti
1Department of Biology and Genetics for Medical Sciences, University of Milan, Italy.
American Journal of Medical Genetics
|May 8, 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.