Ontology highlight
ABSTRACT:
SUBMITTER: O'Driscoll MC
PROVIDER: S-EPMC2933344 | biostudies-literature | 2010 Sep
REPOSITORIES: biostudies-literature
O'Driscoll Mary C MC Daly Sarah B SB Urquhart Jill E JE Black Graeme C M GC Pilz Daniela T DT Brockmann Knut K McEntagart Meriel M Abdel-Salam Ghada G Zaki Maha M Wolf Nicole I NI Ladda Roger L RL Sell Susan S D'Arrigo Stefano S Squier Waney W Dobyns William B WB Livingston John H JH Crow Yanick J YJ
American journal of human genetics 20100819 3
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare autosomal-recessive neurological disorder showing highly characteristic clinical and neuroradiological features. Affected individuals demonstrate early-onset seizures, severe microcephaly, and developmental arrest with bilateral, symmetrical polymicrogyria (PMG) and a band of gray matter calcification on brain imaging; as such, the disorder can be considered as a "pseudo-TORCH" syndrome. By using autozygosity ...[more]