title: Characterization of a group unrelated patients with arthrogryposis multiplex congenita.
abstract: OBJECTIVE
  Arthrogryposis multiplex congenita is a relatively rare neuromuscular syndrome, with a prevalence of 1:3000-5000 newborns. In this study, the authors describe the clinical features of a group of 50 unrelated Mexican patients with arthrogryposis multiplex congenita.
  
  
  METHODS
  Patients were diagnosed by physical and radiographic examination and the family history was evaluated.
  
  
  RESULTS
  Of the 50 cases, nine presented other features (pectum excavatum, cleft palate, mental retardation, ulnar agenesis, etc.). Environmental factors, as well as prenatal and family history, were analyzed. The chromosomal anomalies and clinical entities associated with arthrogryposis multiplex congenita were reported. No chromosomal aberrations were present in the cases with mental retardation. Three unrelated familial cases with arthrogryposis multiplex congenita were observed in which autosomal recessive, autosomal dominant and X-linked inheritance patterns are possible. A literature review regarding arthrogryposis multiplex congenita was also conducted.
  
  
  CONCLUSIONS
  It is important to establish patient-specific physical therapy and rehabilitation programs. A multidisciplinary approach is necessary, with medical, surgical, rehabilitation, social and psychological care, including genetic counseling.
authors.affiliation: Genetics Department, Instituto Nacional de Rehabilitación (INR), Mexico City, Mexico.
authors.forename: Margarita
authors.initials: M
authors.lastname: Valdés-Flores
authors.affiliation: Genetics Department, Instituto Nacional de Rehabilitación (INR), Mexico City, Mexico.
authors.forename: Leonora
authors.initials: L
authors.lastname: Casas-Avila
authors.affiliation: Genetics Department, Instituto Nacional de Rehabilitación (INR), Mexico City, Mexico. Electronic address: edgarhz1969@yahoo.com.mx.
authors.forename: Edgar
authors.initials: E
authors.lastname: Hernández-Zamora
authors.affiliation: Genetics Department, Hospital General de México, Facultad de Medicina, Universidad Nacional Autónoma de México (UNAM), Mexico City, Mexico.
authors.forename: Susana
authors.initials: S
authors.lastname: Kofman
authors.affiliation: Genetics Department, Instituto Nacional de Rehabilitación (INR), Mexico City, Mexico.
authors.forename: Alberto
authors.initials: A
authors.lastname: Hidalgo-Bravo
mesh_terms: D001176:Arthrogryposis / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D059785:Karyotype; D017880:Limb Deformities, Congenital / Q000235:genetics; D008297:Male; D008800:Mexico / Q000453:epidemiology; D010375:Pedigree; D011446:Prospective Studies
keywords: Amioplasia congênita; Amyoplasia congenita; Arthrogryposis; Artrogripose; Contracture; Contratura