title: [Schwartz-Jampel syndrome (osteochondromuscular dystrophy)].
abstract: BACKGROUND
  Schwartz-Jampel syndrome is a rare disorder inherited as an autosomal recessive trait and characterized by growth retardation, multiple skeletal abnormalities, myotonia-like muscle disorders and unusual facies.
  
  
  METHODS
  Case n. 1: A boy, aged 3 years 4 months, was admitted for acute respiratory disease. His main abnormalities included rigid facial expression, blepharophimosis, puckered lips, short neck, pectus carinatum, acetabular dysplasia with coxa vara, platyspondyly and marked growth retardation. There was a continuous muscle fiber activity at rest, with abnormal discharges originating in the muscle component of the neuromuscular junction. Blood investigations revealed low values of IgA. The child died at 4 years. Case n. 2: The sister of case n. 1 was examined at 14 months of age. She presented milder facies abnormalities, difficulties of gait because of stiff hips, muscular hypertrophy, coxa vara and growth retardation. X-rays showed skeletal abnormalities and the electromyogram was similar to those of her brother. She had dislocation of her optic lens.
  
  
  CONCLUSIONS
  These 2 sibs have the characteristic manifestations of Schwartz-Jampel syndrome. Parental consanguinity was also present. The IgA deficiency observed in case n. 1 and the lens dislocation in case n. 2 have both been occasionally reported in this syndrome.
authors.affiliation: Service de Pédiatrie, Urgences, Consultations Externes (PUC), Hôpital d'Enfants, Tunis Jebbari, Tunisie.
authors.forename: S
authors.initials: S
authors.lastname: Ben Becher
authors.forename: J
authors.initials: J
authors.lastname: el Mabrouk
authors.forename: A
authors.initials: A
authors.lastname: Debbiche
authors.forename: A
authors.initials: A
authors.lastname: Hammou
authors.forename: N
authors.initials: N
authors.lastname: Ghram
authors.forename: S
authors.initials: S
authors.lastname: Makni
authors.forename: T
authors.initials: T
authors.lastname: Boudhina
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D017098:IgA Deficiency / Q000175:diagnosis; D007223:Infant; D007906:Lens Subluxation / Q000175:diagnosis; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics
vernacular_title: Le syndrome de Schwartz-Jampel (dystrophie ostéochondromusculaire).