Spondylocarpotarsal synostosis with ocular findings.
| Autor: | Steiner CE; Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil. steiner@unicamp.br, Torriani M, Norato DY, Marques-de-Faria AP |
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| Jazyk: | angličtina |
| Zdroj: | American journal of medical genetics [Am J Med Genet] 2000 Mar 13; Vol. 91 (2), pp. 131-4. |
| Abstrakt: | We report on three sibs presenting with spondylocarpotarsal synostosis, short-trunk dwarfism of postnatal onset, scoliosis, unsegmented thoracic vertebrae with unilateral bar, and carpal bone fusion. Tarsal bone fusion and dental abnormalities were noted in some of them, indicating pleiotropy and intrafamilial variability. Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this condition. (Copyright 2000 Wiley-Liss, Inc.) |
| Databáze: | MEDLINE |
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