New case of the Richieri-Costa/Guion-Almeida syndrome |
| |
| Authors: | Natacci F Pierri M Rossetti M Sala M Larizza L |
| |
| Institution: | Department of Biology and Genetics for Medical Sciences, University of Milan, Italy. |
| |
| 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. |
| |
| Keywords: | |
| 本文献已被 PubMed 等数据库收录！ |
|
