New case of the Richieri-Costa/Guion-Almeida syndrome.
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.
Natacci
F
F
Department of Biology and Genetics for Medical Sciences, University of Milan, Italy.
Pierri
M
M
Rossetti
M
M
Sala
M
M
Larizza
L
L
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D002971:Cleft Lip / Q000175:diagnosis; D002972:Cleft Palate / Q000175:diagnosis; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D008831:Microcephaly / Q000175:diagnosis; D010641:Phenotype; D013577:Syndrome