RT Journal Article
SR Electronic
T1 Schwartz-Jampel syndrome in two daughters of first cousins.
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 161
OP 169
DO 10.1136/jnnp.41.2.161
VO 41
IS 2
A1 L Pavone
A1 F Mollica
A1 A Grasso
A1 A Cao
A1 F Gullotta
YR 1978
UL http://jnnp.bmj.com/content/41/2/161.abstract
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.