Schwartz–Jampel syndrome with dominant inheritance

Robert M. Pascuzzi, Roberto Gratianne, Biagio Azzarelli, John C. Kincaid

Research output: Contribution to journalArticle

24 Scopus citations

Abstract

The Schwartz–Jampel syndrome (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, short stature, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity. The inheritance pattern of SJS has been assumed to be autosomal recessive. We report the occurrence of the classic SJS syndrome in both a father and son in a non‐consanguineous family, suggesting that SJS has the potential for a dominant pattern of inheritance.

Original languageEnglish (US)
Pages (from-to)1152-1163
Number of pages12
JournalMuscle & Nerve
Volume13
Issue number12
DOIs
StatePublished - Dec 1990

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Keywords

  • Schwartz–Jampel syndrome
  • muscle fiber activity, continuous
  • myotonia
  • skeletal deformities

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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