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PubMed · 9588537

Microlissencephaly.

L Sztriha·L Al-Gazali·E Várady·M Nork·M Varughese
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Abstract

An inbred Arab family with three neonates affected by microlissencephaly syndrome is reported. Brain magnetic resonance imaging in the index case revealed very thin brain mantle with agyria-pachygyria, agenesis of the corpus callosum, and hypoplasia of the brainstem and cerebellum. All three neonates had microcephaly, arthrogryposis multiplex congenita, and micropenis. The presence of three affected newborn infants in a consanguineous family suggests an autosomal-recessive mode of inheritance of this syndrome. The spectrum of microlissencephaly syndrome is reviewed.

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Abnormalities, MultipleAgenesis of Corpus CallosumArabsArthrogryposisBrainCerebellumConsanguinityCorpus CallosumFatal OutcomeGenitalia, MaleHumansInfant, NewbornMagnetic Resonance ImagingMaleMicrocephalyPedigreeSyndromeCase ReportsJournal ArticleReview

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L Sztriha, L Al-Gazali, E Várady, M Nork, M Varughese. 1998. Microlissencephaly.. https://doi.org/10.1016/s0887-8994(97)00213-0

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