Schwartz-Jampel syndrome with dominant inheritance.
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.
Pascuzzi
R M
RM
Department of Neurology, Indiana University Medical Center, Indianapolis.
Gratianne
R
R
Azzarelli
B
B
Kincaid
J C
JC
D000328:Adult; D001706:Biopsy; D002648:Child; D004576:Electromyography; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology / Q000503:physiopathology; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology