Klinische Padiatrie
[De Barsy-Moens-Dierckx syndrome: unusual course in a neonate].
只有註冊用戶可以翻譯文章
登陸註冊
鏈接已保存到剪貼板
關鍵詞
抽象
We report about a premature infant with a De Barsy-Moens-Dierckx-syndrome, which is a rare cutaneo-oculo-cerebral malformation-syndrome. It is defined by the combination of a progeroid aspect, cutis laxa, growth retardation, cornea clouding, mental retardation and athetoid movements. Furthermore, the reported case showed a remarkable thermolability and suffered from generalised seizures resistant to therapy. Despite extensive sonographic examinations the prepartal diagnosis seems to be very difficult.