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 previous reported cases, these also were sporadic and had normal chromosomes.
|Number of pages||5|
|Journal||American Journal of Medical Genetics|
|Publication status||Published - 1987|
ASJC Scopus subject areas
- Neuropsychology and Physiological Psychology