Spondylocarpotarsal Synostosis With Ocular Findings.

dc.creatorSteiner, C E
dc.creatorTorriani, M
dc.creatorNorato, D Y
dc.creatorMarques-de-Faria, A P
dc.date2000-Mar
dc.date2015-11-27T12:22:56Z
dc.date2015-11-27T12:22:56Z
dc.date.accessioned2018-03-29T00:54:52Z
dc.date.available2018-03-29T00:54:52Z
dc.identifierAmerican Journal Of Medical Genetics. v. 91, n. 2, p. 131-4, 2000-Mar.
dc.identifier0148-7299
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/10748412
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/194721
dc.identifier10748412
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1294954
dc.descriptionWe 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.
dc.description91
dc.description131-4
dc.languageeng
dc.relationAmerican Journal Of Medical Genetics
dc.relationAm. J. Med. Genet.
dc.rightsfechado
dc.rightsCopyright 2000 Wiley-Liss, Inc.
dc.sourcePubMed
dc.subjectAbnormalities, Multiple
dc.subjectAdolescent
dc.subjectAdult
dc.subjectCarpal Bones
dc.subjectChromosome Banding
dc.subjectDwarfism
dc.subjectEye Abnormalities
dc.subjectFamily Health
dc.subjectFemale
dc.subjectHumans
dc.subjectMale
dc.subjectPedigree
dc.subjectSpine
dc.subjectSynostosis
dc.subjectTarsal Bones
dc.titleSpondylocarpotarsal Synostosis With Ocular Findings.
dc.typeArtículos de revistas


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