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., Colosimo, C., Balducci, F., Mariotti, P., Serra, F., Scarano, G., Mastroiacovo, P., Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome, <<CLINICAL GENETICS>>, 1994; 45 (3): 140-144. [doi:10.1111/j.1399-0004.1994.tb04011.x] [http://hdl.handle.net/10807/37008]

Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome

Zampino, Giuseppe;Colosimo, Cesare;Mariotti, Paolo;Serra, Fabrizio;Mastroiacovo, Pierpaolo
1994

Abstract

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.
1994
Inglese
Zampino, G., Colosimo, C., Balducci, F., Mariotti, P., Serra, F., Scarano, G., Mastroiacovo, P., Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome, <<CLINICAL GENETICS>>, 1994; 45 (3): 140-144. [doi:10.1111/j.1399-0004.1994.tb04011.x] [http://hdl.handle.net/10807/37008]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/37008
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