Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome.
Van Maldergem et al. (1992) described a new syndrome in an 11-year-old girl, characterized by: mental retardation, hypotonia, dysmorphic facies with telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth, malformed ears, finger camptodactyly, and joint hyperlaxity. In this report we present a 5-year-old girl with very similar clinical findings. We confirm the existence of this condition as an independent clinical entity, and we propose that, based on the major clinical manifestations, it should be defined as "cerebro-facio-articular" syndrome.
Zampino
G
G
Istituto di Pediatria, Facoltà di medicina A. Gemelli, Università Cattolica, Rome, Italy.
Colosimo
C
C
Balducci
F
F
Mariotti
P
P
Serra
F
F
Scarano
G
G
Mastroiacovo
P
P
D000015:Abnormalities, Multiple; D001259:Ataxia / Q000151:congenital*; D001763:Blepharoptosis / Q000151:congenital; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D007593:Joint Instability / Q000151:congenital; D013577:Syndrome