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Spondylocarpotarsal synostosis with ocular findings

✍ Scribed by Steiner, Carlos Eduardo; Torriani, Martin; Norato, Denise Yvonne Janovitz; Marques-de-Faria, Antonia Paula

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 17 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000313)91:2<131::aid-ajmg10>3.0.co;2-g

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✦ Synopsis

We report on three sibs presenting with spondylocarpotarsal synostosis, shorttrunk 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. Am.

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