Kohlschutter syndrome in siblings.
Kohlschutter syndrome is a rare neurodegenerative disorder presenting with intractable seizures, developmental regression and characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta. We report a new family with two affected siblings.
Donnai
D
D
Academic Unit of Medical Genetics, St Mary's Hospital, Manchester, UK Royal Preston Hospital, Preston, Lancs, UK Clinical and Molecular Genetics, Institute of Child Health, London, UK.
Tomlin
P I
PI
Winter
R M
RM
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D000567:Amelogenesis Imperfecta / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D003744:Dental Enamel Hypoplasia / Q000473:pathology*; D002658:Developmental Disabilities / Q000473:pathology*; D004827:Epilepsy / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D035781:Siblings; D013577:Syndrome