Lissencephaly and facial dysmorphism: is it Miller-Dieker syndrome?
نویسندگان
چکیده
منابع مشابه
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Classical lissencephaly (smooth brain) or generalized agyria-pachygyria is a severe brain malformation which results from an arrest of neuronal migration at 9-13 weeks gestation. It has been observed in several malformation syndromes including Miller-Dieker syndrome (MDS) and isolated lissencephaly sequence (ILS). A gene containing beta-transducin like repeats, now known as LIS1, was previously...
متن کاملA revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
Miller-Dieker syndrome (MDS) is a multiple malformation syndrome characterized by classical lissencephaly and a characteristic facies. It is associated with visible or submicroscopic deletions within chromosome band 17p13.3. Lissencephaly without facial dysmorphism has also been observed and is referred to as isolated lissencephaly sequence (ILS). Apparently partial and non-overlapping deletion...
متن کاملMiller-Dieker syndrome with ring chromosome 17.
A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later develope...
متن کاملMiller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3
Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by an unbalanced segregation of the parental balanced translocation of 17p with other chromosomes. The proband presented with facial dysmorphism, arthrogryposis, and intrauterine growth ret...
متن کاملINTRODUCTION Lissencephaly is a congenital brain malformation manifested by a smooth cerebral surface due to incomplete neuronal migration (Dobyns, 1989). Type I lissencephaly occurs either as an isolated abnormality or in association with dysmorphic facial appearance in Miller-Dieker syndrome
Lissencephaly is a congenital brain malformation manifested by a smooth cerebral surface due to incomplete neuronal migration (Dobyns, 1989). Type I lissencephaly occurs either as an isolated abnormality or in association with dysmorphic facial appearance in Miller-Dieker syndrome (MDS; Miller, 1963; Dieker, 1967). Lissencephaly patients usually die young with profound mental retardation, muscl...
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ژورنال
عنوان ژورنال: Neurology and Clinical Neuroscience
سال: 2013
ISSN: 2049-4173
DOI: 10.1111/ncn3.54