Article
Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.
Brain : a journal of neurology - 1 Jan 2006
Chandler K E, Del Rio A, Rakshi K, Springell K, Williams D K, Stoodley N, Woods C G, Pilz D T
Abstract excerpt
We report three related and one unrelated child with an apparently novel neurodevelopmental disorder. The clinical course was very similar in all the four patients: congenital microcephaly with severe failure of post-natal brain growth, neonatal onset of intractable seizures associated with lack of developmental progression and death within the first 3 years of life. The appearance on cerebral neuroimaging was...
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