Author/Editor		Borinc-Beden, A; Kopač, Š
Title		Miller-Dieker sindrom
Translated title		Miller-Dieker syndrome
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 7, št. 2
Publication year		2000
Volume		str. 75-8
Language		slo
Abstract		Lissencephaly is one of the most severe and the best-known disorder of corticogenesis. It results from abnormal neuronal migration during the early stage of embryonic development. A common cause is genetic mutation. Deficiency of LIS 1 protein, which plays a critical role in neuronal migration, is caused by deletions of chromosome 17p 13.3. Over 25 different syndromes with lissencephaly have been described. Miller - Dieker syndrome consists of type I lissencephaly, characteristic facial appearance, profound mental retardation and sometimes other abnormalities.
Summary		Lizencefalija je ena najhujših in hkrati najbolj raziskanih motenj razvoja možganske skorje. Vzrok je motnja v migraciji nevronov, ki nastane V zgodnji fazi embrionalnega razvoja: Motnja je pogosto genetsko pogojena. Identificiran je lokus na 17p 13.3 kromosomu, katerega delecija ima za posledico pomanjkanje proteina LIS 1, ki ima ključno vlogo pri nevronski migraciji. Opisanih je več kot 25 sindromov, povezanih z lizencefalijo. Pri Miller-Diekerjevem sindromu je poleg lizencefalije tip I prisoten značilen videz obraza, duševna manjrazvitost, občasno so pridružene še dodatne anomalije.
Descriptors		NERVOUS SYSTEM CEREBRAL CORTEX INFANT FACE MENTAL RETARDATION