Produção Nacional
Spondylocarpotarsal synostosis with ocular findings
2000; Wiley; Volume: 91; Issue: 2 Linguagem: Inglês
10.1002/(sici)1096-8628(20000313)91
ISSN1096-8628
AutoresCarlos Eduardo Steiner, Martin Torriani, Denise Yvonne Janovitz Norato, Antonia Paula Marques‐de‐Faria,
Tópico(s)Bone Tumor Diagnosis and Treatments
ResumoWe 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. Am. J. Med. Genet. 91:131–134, 2000. © 2000 Wiley-Liss, Inc.
Referência(s)