|
Myhre syndrome is a rare genetic disorder. ==Signs and symptoms== The clinical presentation is variable but includes *developmental and growth delay *athletic muscular built *skeletal anomalies *joint stiffness *characteristic facial appearance *deafness *variable cognitive deficits The facial abnormalities include: *blepharophimosis (an abnormally narrow gap between the upper and lower eyelids) *maxillary hypoplasia (underdevelopment of the upper jaw) *prognathism (prominent lower jaw) The skeletal abnormalities include: *short stature *square body shape *broad ribs *iliac hypoplasia *brachydactyly *flattened vertebrae *thickened calvaria Congenital heart disease and undescended testes have also been reported in association with this syndrome. 抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Myhre syndrome」の詳細全文を読む スポンサード リンク
|