Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome |
| |
Authors: | Gurrieri Fiorella Scarano Gioacchino Garavelli Livia Della Monica Matteo Lonardo Fortunato Cuda Domenico Banchini Giacomo Opitz John M Neri Giovanni |
| |
Affiliation: | Istituto di Genetica Medica, Università Cattolica del S. Cuore, Facoltà di Medicina, Largo Francesco Vito 1, 00168 Rome, Italy. fgurrieri@rm.unicatt.it |
| |
Abstract: | Recently we reported two sibs, brother and sister, with a new multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by mild to moderate psychomotor delay, Robin sequence, distinctive facial appearance, and brachydactyly. We have subsequently observed a similar pattern of anomalies in two unrelated patients who also showed additional clinical findings. This new observation supports the existence of a new syndrome and expands the phenotypic spectrum of the condition. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|