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

Giuseppe Zampino, Cesare Colosimo, Paolo Mariotti, Fabrizio Serra, Pierpaolo Mastroiacovo, Francesca Balducci, Gioacchino Scarano

Risultato della ricerca: Contributo in rivistaArticolo in rivista

13 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)140-144
Numero di pagine5
RivistaClinical Genetics
Volume45
Stato di pubblicazionePubblicato - 1994

Keywords

  • Abnormalities, Multiple
  • Ataxia
  • Blepharoptosis
  • Brain
  • Child, Preschool
  • Face
  • Female
  • Fingers
  • Foot Deformities, Congenital
  • Hand Deformities, Congenital
  • Humans
  • Infant, Newborn
  • Intellectual Disability
  • Joint Instability
  • Syndrome

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