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Type: Artigo de periódico
Title: Spondylocarpotarsal synostosis with ocular findings
Author: Steiner, CE
Torriani, M
Norato, DYJ
Marques-de-Faria, AP
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, (C) 2000 Wiley-Liss, Inc.
Subject: spondylocarpotarsal synostosis
carpal fusion
tarsal fusion
unsegmented vertebrae
autosomal recessive
Country: EUA
Editor: Wiley-liss
Rights: fechado
Identifier DOI: 10.1002/(SICI)1096-8628(20000313)91:2<131
Date Issue: 2000
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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