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High frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis in Brazilian patients with neurofibromatosis type 1.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Trovó-Marqui, Alessandra B. Goloni-Bertollo, Eny Maria Valério, Nelson Iguimar Pavarino-Bertelli, Erika Cristina Muniz, Marcos Pontes Teixeira, M. Fernanda Antonio, João Roberto Tajara, Eloiza Helena |
| Copyright Year | 2005 |
| Abstract | A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients (60% females, 40% males) who met the NIH criteria for the diagnosis of NF1, 98% had more than six café-au-lait patches, 94.5% had axillary freckling, 45% had inguinal freckling, and 87.5% had Lisch nodules. Cutaneous neurofibromas were observed in 96%, and 40% presented plexiform neurofibromas. A positive family history of NF1 was found in 60%, and mental retardation occurred in 35%. Some degree of scoliosis was noted in 49%, 51% had macrocephaly, 40% had short stature, 76% had learning difficulties, and 2% had optic gliomas. Unexpectedly high frequencies of plexiform neurofibromas, mental retardation, learning difficulties, and scoliosis were observed, probably reflecting the detailed clinical analysis methods adopted by the Neurofibromatosis Program. These same patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism. Four different mutations (Q1189X, 3525-3526delAA, E1356G, c.4111-1G>A) and four polymorphisms (c.3315-27G>A, V1146I, V1317A, c.4514+11C>G) were identified. These data were recently published. |
| Starting Page | 48 |
| Ending Page | 56 |
| Page Count | 9 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://scielo.br/pdf/bjmbr/v38n9/v38n9a20.pdf |
| PubMed reference number | 16138229v1 |
| Volume Number | 38 |
| Issue Number | 9 |
| Journal | Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Body Height Cepan burn and scar treatment Cutaneous Candidiasis Dwarfism Entity Name Part Qualifier - adopted Exons Eye Family History Domain Forty Nine Genetic Polymorphism Inguinal region Learning Disorders Macrocephaly Mandibular right canine abutment Mental Retardation Mutation NF1 gene Neurofibromatosis 1 Optic Nerve Glioma Patients Plexiform Neurofibroma Scientific Publication Scoliosis, unspecified |
| Content Type | Text |
| Resource Type | Article |
