1/3. Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III.We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gln) of theTRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
2/3. Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses-mental retardation syndrome (langer-giedion syndrome).STUDY DESIGN: Case report of a severe upper cervical cord compression and tetraparesis by a massive cervical exostotic osteochondroma in a patient with multiple exostoses-mental retardation syndrome (langer-giedion syndrome; LGS). OBJECTIVE: To describe this very rare pathological condition and the results of surgical intervention. SETTING: Gifu, japan. methods: A 23-year-old man was referred to our clinic because of progressing tetraparesis. He had previously been diagnosed with hereditary multiple exostoses and mental retardation. As he had not complained of any symptoms, his family only noticed the tetraparesis after advanced deterioration. His face possessed the pathognomic features of LGS. A postmyelogram CT scan demonstrated an exostotic mass arising from the left-side C2 pedicle with associated severe spinal cord compression. He was diagnosed with LGS. Hemilaminectomy on the left side and resection of the osteochondroma were performed. RESULTS: At 5 years postoperatively, a neurological examination showed the full return of all motor functions. The CT scan revealed no intracanalar recurrence of the tumor. CONCLUSION: In this case of severe tetraparesis due to cervical osteochondroma, decompression by hemilaminectomy provided excellent results. In patients with LGS and intracanalar osteochondroma, the neurological deficit may be masked by mental retardation. Hence, awareness of this pathological condition will help clinicians diagnose it at an early stage.- - - - - - - - - - ranking = 0.16666666666667keywords = family (Clic here for more details about this article) |
3/3. Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864.Four members of a family - three of whom have facial features mildly resembling those of the trichorhinophalangeal syndrome, type I, and all of whom manifested appendicular bony prominences similar to trichorhinophalangeal syndrome, type II - were found to have the radiographic findings of metachondromatosis. The radiographic manifestations and evolution of metachondromatosis are depicted in this report.- - - - - - - - - - ranking = 0.83333333333333keywords = family (Clic here for more details about this article) |