贝都因家族中与小脑发育不全及肌阵挛性癫痫相关的无脑回畸形：一种新综合征？
Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome?
作者信息
Farah S, Sabry M A, Khuraibet A, Khaffagi S, Rudwan M, Hassan M, Haseeb N, Abulhassan S, Abdel-Rasool M A, Elgamal S, Qasrawi B, Al-Busairi W, Farag T I
机构信息
Neurology Department, Ibn Sina Hospital, Kuwait.
出版信息
Clin Genet. 1997 May;51(5):326-30. doi: 10.1111/j.1399-0004.1997.tb02482.x.
Abstract
Clinico-radiological assessment of three mentally retarded members of a large Bedouin kindred showed lissencephaly, spastic paraparesis, myoclonic epilepsy and cerebellar hypoplasia. It seems that the familial association of lissencephaly/myoclonic epilepsy/cerebellar hypoplasia represents a new entity.
摘要
对一个大型贝都因家族的三名智力迟钝成员进行的临床放射学评估显示，他们患有无脑回畸形、痉挛性截瘫、肌阵挛性癫痫和小脑发育不全。无脑回畸形/肌阵挛性癫痫/小脑发育不全的家族关联似乎代表了一种新的病症。
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