PT  - JOURNAL ARTICLE
AU  - Rushton, A R
AU  - Genel, M
TI  - Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism.
AID  - 10.1136/jmg.18.5.335
DP  - 1981 Oct 01
TA  - Journal of Medical Genetics
PG  - 335--339
VI  - 18
IP  - 5
4099  - http://jmg.bmj.com/content/18/5/335.short
4100  - http://jmg.bmj.com/content/18/5/335.full
SO  - J Med Genet1981 Oct 01; 18
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.