Child's Nervous System 2007-Jul
Hypothalamic hamartoma with bilateral anophthalmia.
只有注册用户可以翻译文章
登陆注册
链接已保存到剪贴板
关键词
抽象
BACKGROUND
Hypothalamic hamartomas are congenital malformations. Clinically, they can be asymptomatic, but they cause seizures, mental retardation and precocious puberty in many cases.
METHODS
A 20-day-old boy with hypothalamic hamartoma and bilateral anophthalmia was presented. Except those, no other congenital anomaly was detected.
CONCLUSIONS
This is a rare case of hypothalamic hamartoma with bilateral anophthalmia. The mutations at SOX2 has an important role in the developing brain and eyes.