Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?
| Autor: | Cristino Dijamco, Catherine McElveen, Marta I. Arriaza, Yves Lacassie, M. Caroline Duncan, Paul F. Stahls |
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| Rok vydání: | 1999 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty business.industry Brachydactyly Fitzsimmons-Guilbert syndrome Progressive spastic paraplegia medicine.disease nervous system diseases Dysarthria medicine Spasticity medicine.symptom business Identical twins Paraplegia Genetics (clinical) Uniovular twins |
| Zdroj: | American Journal of Medical Genetics. 84:90-93 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/(sici)1096-8628(19990521)84:2<90::aid-ajmg2>3.0.co;2-8 |
| Popis: | We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in uniovular twins characterized by progressive spastic paraplegia, dysarthria, brachydactyly type E, and cone-shaped epiphyses. During the last 11 years a report of only one other patient with this syndrome has been published; hence, its phenotypic delineation may be only partial. Although our patients might expand the phenotypic spectrum of this syndrome, they may represent a new disorder. |
| Databáze: | OpenAIRE |
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