Chondrodystrophic myotonia versus schwartz-jampel syndrome
β Scribed by Dr Donald C. Aberfeld
- Publisher
- John Wiley and Sons
- Year
- 1979
- Tongue
- English
- Weight
- 55 KB
- Volume
- 5
- Category
- Article
- ISSN
- 0364-5134
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π SIMILAR VOLUMES
Schwartz-Jampel syndrome generally presents in childhood with short stature, limited joint mobility, masklike facies with blepharophimosis, myotonia, and often muscle hypertrophy. Few cases with neonatal manifestations have been described. A newborn with severe manifestations is reported and the lit
## Abstract A case of SchwartzβJampel syndrome with electrical, radiographic, biopsy, and pharmacological studies is presented along with a summary of the 12 other reported cases. Radiological study showed nonspecific but definite abnormalities. The muscle biopsy revealed myopathic and neurogenic f
## Communicated by Christine Van Broeckhoven Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia. SJS results from mutations in the HSPG2 gene, which encodes perlecan, a major component of basement membranes. Only eigh