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Titolo:
CEREBRO-FACIO-ARTICULAR SYNDROME OF MALDERGEM,VAN - CONFIRMATION OF ANEW MR MCA SYNDROME/
Autore:
ZAMPINO G; COLOSIMO C; BALDUCCI F; MARIOTTI P; SERRA F; SCARANO G; MASTROIACOVO P;
Indirizzi:
UNIV CATTOLICA SACRO CUORE,FAC A GEMELLI,IST PEDIAT,LARGO A GEMELLI 8I-00168 ROME ITALY UNIV CATTOLICA SACRO CUORE,FAC A GEMELLI,IST PEDIAT I-00168 ROME ITALY UNIV CATTOLICA SACRO CUORE,FAC A GEMELLI,IST RADIOL I-00168 ROME ITALY UNIV CATTOLICA SACRO CUORE,FAC A GEMELLI,IST NEUROL I-00168 ROME ITALY UNIV CATTOLICA SACRO CUORE,FAC MED A GEMELLI,IST ORTOPED ROME ITALY
Titolo Testata:
Clinical genetics
fascicolo: 3, volume: 45, anno: 1994,
pagine: 140 - 144
SICI:
0009-9163(1994)45:3<140:CSOM-C>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Keywords:
ATAXIA; CAMPTODACTYLY; CEREBROFACIO-ARTICULAR SYNDROME; MCA/MR; PTOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
6
Recensione:
Indirizzi per estratti:
Citazione:
G. Zampino et al., "CEREBRO-FACIO-ARTICULAR SYNDROME OF MALDERGEM,VAN - CONFIRMATION OF ANEW MR MCA SYNDROME/", Clinical genetics, 45(3), 1994, pp. 140-144

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 similarclinical 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 00:59:27