Schwartz-Jampel syndrome in two daughters of first cousins.
Open Access
- 1 February 1978
- journal article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 41 (2) , 161-169
- https://doi.org/10.1136/jnnp.41.2.161
Abstract
The clinical and pathological features of two sisters born from consanguineous parents and affected by the rare Schwartz-Jampel syndrome are reported. The parental consanguinity of these two patients and the findings of electromyographic changes in the mother strongly support an autosomal recessive pattern of inheritance. No response of growth hormone secretion to arginine and insulin stimulation tests was found.Keywords
This publication has 13 references indexed in Scilit:
- The Schwartz syndrome in Southern AfricaClinical Genetics, 2008
- IgA deficiency and recurrent pneumonia in the Schwartz-Jampel syndromeThe Journal of Pediatrics, 1976
- The Schwartz-Jampel syndrome: Its clinical, physiological and histological expressionsJournal of the Neurological Sciences, 1974
- Chondrodystrophic Myotonia – A report of two unrelated Dutch patientsNeuropediatrics, 1974
- Continuous muscle fiber activity in the Schwartz-Jampel syndromeElectroencephalography and Clinical Neurophysiology, 1972
- Schwartz syndrome: Myotonia with blepharophimosis and limitation of jointsThe Journal of Pediatrics, 1972
- Chondrodystrophic Myotonia: Report of Two CasesArchives of Neurology, 1970
- Myotonia, Shortness of Stature, and Hip DysplasiaAmerican Journal of Diseases of Children, 1969
- MYOTONIA, DWARFISM, DIFFUSE BONE DISEASE AND UNUSUAL OCULAR AND FACIAL ABNORMALITIES (A NEW SYNDROME)Brain, 1965
- Congenital Blepharophimosis Associated with a Unique Generalized MyopathyArchives of Ophthalmology (1950), 1962