title: Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.
abstract: 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 almost identical, with simplified gyration associated with a non-thickened cortex, severe hypoplasia of the corpus callosum, a small flattened brain stem, and specific cystic lesions in the white matter around the temporal and occipital horns. To our knowledge these patients represent a previously unreported, autosomal recessive syndrome. Homozygosity mapping in the consanguineous family has identified a candidate region on the chromosome 2p16.
authors.affiliation: Clinical Genetics, St Mary's Hospital Manchester, Hathersage Road, Manchester, UK.
authors.forename: K E
authors.initials: KE
authors.lastname: Chandler
authors.forename: A
authors.initials: A
authors.lastname: Del Rio
authors.forename: K
authors.initials: K
authors.lastname: Rakshi
authors.forename: K
authors.initials: K
authors.lastname: Springell
authors.forename: D K
authors.initials: DK
authors.lastname: Williams
authors.forename: N
authors.initials: N
authors.lastname: Stoodley
authors.forename: C G
authors.initials: CG
authors.lastname: Woods
authors.forename: D T
authors.initials: DT
authors.lastname: Pilz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000002:abnormalities*; D002552:Cerebral Ventricles / Q000002:abnormalities / Q000473:pathology; D002889:Chromosomes, Human, Pair 2; D003241:Consanguinity; D019066:Facies; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012640:Seizures / Q000235:genetics* / Q000473:pathology; D013577:Syndrome
chemical_list: D005819:Genetic Markers