Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/194721
Type: Artigo de periódico
Title: Spondylocarpotarsal Synostosis With Ocular Findings.
Author: Steiner, C E
Torriani, M
Norato, D Y
Marques-de-Faria, A P
Abstract: 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.
Subject: Abnormalities, Multiple
Adolescent
Adult
Carpal Bones
Chromosome Banding
Dwarfism
Eye Abnormalities
Family Health
Female
Humans
Male
Pedigree
Spine
Synostosis
Tarsal Bones
Rights: fechado
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/10748412
Date Issue: 2000
Appears in Collections:Unicamp - Artigos e Outros Documentos

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