Rushton A R, Genel M
J Med Genet. 1981 Oct;18(5):335-9. doi: 10.1136/jmg.18.5.335.
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.
在一个近亲结婚家庭中，一对父母正常的青少年子女有神经、内分泌和外胚层发育异常的迹象。他们有智力发育迟缓、听力丧失、眼球震颤、反射亢进和共济失调，符合橄榄桥脑小脑变性。尽管血清生长激素和生长调节素-C正常，但他们患有促性腺激素缺乏性性腺功能减退和身材极矮。此外，还有牙发育不全，牙齿呈钉状，面中部发育不全。这种中脑结构发育不全综合征似乎是作为常染色体隐性性状遗传的。
