Polymicrogyria
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Polymicrogyria (also known as cobblestone lissencephaly) is a neurodevelopmental disorder with abnormal gyrification of the cerebral cortex: Instead of the few and large convolutions (gyri) typical for normal brain development, multiple small convolutions occur, in the result of which the brain surface appears pebbled. Further diagnostic criteria include white matter reduction, ventricular enlargement, and hypoplasia of the brainstem and cerebellum[1][2]. In a subset of cases, the AHI1 gene seems to be invoved[3].
References
- ↑ Pabuşçu, Y.; N. Bulakbaşý & M. Kocaoğlu et al. (2002), "Walker–Warburg syndrome variant", Computerized Medical Imaging and Graphics 26 (6): 453–458, DOI:10.1016/S0895-6111(02)00026-5 [e]
- ↑ Jansen, A. & E. Andermann (2005), "Genetics of the polymicrogyria syndromes", Journal of Medical Genetics 42 (5): 369, DOI:10.1136/jmg.2004.023952 [e]
- ↑ Dixon-salazar, T.; J.L. Silhavy & S.E. Marsh et al. (2004), "Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria", The American Journal of Human Genetics 75 (6): 979–987, DOI:10.1086/425985 [e]