| Literature DB >> 3425595 |
G Neri1, G Sabatino, E Bertini, M Genuardi.
Abstract
We report on two additional patients with the cardiofaciocutaneous (CFC) syndrome, the first to be reported outside the United States. They have several of the characteristic manifestations of this new multiple congenital anomalies/mental retardation syndrome, namely, mental retardation, growth retardation, relative macrocephaly, unusual face, abnormal hair, skin involvement, heart defect, hernias, and splenomegaly. Similar to all previously reported cases, these also were sporadic and had normal chromosomes.Entities:
Mesh:
Year: 1987 PMID: 3425595 DOI: 10.1002/ajmg.1320270404
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299