Key result
The occurrence of classic Schwartz-Jampel syndrome in both a father and son in a non-consanguineous family suggests the potential for a dominant pattern of inheritance.
Case Report (n=2)
This case report suggests that Schwartz-Jampel syndrome may have a dominant pattern of inheritance, challenging the assumption that it is exclusively autosomal recessive.
Hypothesis-generating for dominant inheritance in Schwartz-Jampel syndrome; challenges recessive-only model but requires validation.
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.
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Pascuzzi et al. (1990) conducted a case report in Schwartz-Jampel syndrome (n=2). The occurrence of classic Schwartz-Jampel syndrome in both a father and son in a non-consanguineous family suggests the potential for a dominant pattern of inheritance.
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