RT Journal Article
SR Electronic
T1 Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 335
OP 339
DO 10.1136/jmg.18.5.335
VO 18
IS 5
A1 Rushton, A R
A1 Genel, M
YR 1981
UL http://jmg.bmj.com/content/18/5/335.abstract
AB Two teenaged children born of normal parents in a consanguineous family had evidence of abnormal neurological, endocrine, and ectodermal development. They had mental retardation, hearing loss, ocular dysmetria, hyperreflexia, and ataxia consistent with olivopontocerebellar degeneration. They had hypogonadotrophic hypogonadism and extremely short stature despite normal serum growth hormone and somatomedin-C. There was also hypodontia with peg shaped teeth and mid-face hypoplasia. This syndrome of hypoplasia of mid-lind structures appeared to be inherited as an autosomal recessive trait.