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

Research output: Contribution to journalArticle

13 Citations (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.
Original languageEnglish
Pages (from-to)140-144
Number of pages5
JournalClinical Genetics
Volume45
Publication statusPublished - 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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