Here I present: “Diaphyseal Medullary Stenosis”, Mendelian Inheritance in Man’, 1966.骨幹脊髓狹窄。(MTAP) icd10=Q78.3
INTRODUCTION
Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. In families, affected individuals also show a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma. Thus, the disorder may be considered a tumor predisposition syndrome.
There is evidence that diaphyseal medullary stenosis with malignant fibrous histiocytoma is caused by heterozygous mutation in the MTAP gene methylthioadenosine phosphorylase on cytogenetic 9p21.3 and genomic coordinate 9:21,802,636.
