PT  - JOURNAL ARTICLE
AU  - L Pavone
AU  - F Mollica
AU  - A Grasso
AU  - A Cao
AU  - F Gullotta
TI  - Schwartz-Jampel syndrome in two daughters of first cousins.
AID  - 10.1136/jnnp.41.2.161
DP  - 1978 Feb 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 161--169
VI  - 41
IP  - 2
4099  - http://jnnp.bmj.com/content/41/2/161.short
4100  - http://jnnp.bmj.com/content/41/2/161.full
SO  - J Neurol Neurosurg Psychiatry1978 Feb 01; 41
AB  - 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.