CEREBRO-FACIO-ARTICULAR SYNDROME OF MALDERGEM,VAN - CONFIRMATION OF ANEW MR MCA SYNDROME/

Van Maldergem et al. (1992) described a new syndrome in an 11-year-old girl, characterized by: mental retardation, hypotonia, dysmorphic fac ies with telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth, malformed ears, finger camptodactyly, and joint hyper laxity. In this report we present a 5-year-old girl with very similar clinical findings. We confirm the existence of this condition as an in dependent clinical entity, and we propose that, based on the major cli nical manifestations, it should be defined as ''cerebro-facio-articula r'' syndrome.