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J Korean Child Neurol Soc. 2006 Nov;14(2):369-374. Korean. Case Report.
Lee EJ , Kim WS .
Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju, Korea. wskim@chungbuk.ac.kr
Abstract

Neurofibromatosis type I is one of the most common autosomal dominant disorders, characterized by cafe au-lait spots, axillary freckling, Lisch nodules in the iris, multiple neurofibromas and the bone involvement with pseudoarthrosis, and the bowing of long bones. Also, osteogenesis imperfecta type I is one of the common disorders of connective tissues with autosomal dominant inheritance, characterized by osteoporosis, osseous fragility with multiple fractures, blue sclerae, deafness and imperfect dentinogenesis. Although both diseases have autosomal dominant inheritance, there have been no reports of patients with combined diseases. This case is to represent a patient of ostogenesis imperfecta type I and neurofibromatosis type I combined with familial inheritance referring to medical documents.

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