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Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma

✍ Scribed by Bethlehem Gelaw; Said Ali; Joseph Becker


Publisher
Springer
Year
2004
Tongue
English
Weight
172 KB
Volume
33
Category
Article
ISSN
0364-2348

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Rothmund-Thomson syndrome and osteosarco
✍ Cumin, Isabelle; Cohen, Jean-Yves; David, Albert; MΓ©chinaud, FranΓ§oise; Avet-Loi πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 302 KB

The Rothmund-Thomson syndrome (RTS), also called poikiloderma congenitale is a rare autosomal recessive disease first described in 1868. This syndrome includes most frequently seen skin lesions (atrophy, telangiectases, pigmentation), cataracts and bone defects (dysostosis, dysplasia). Some authors

A case of klippel-feil syndrome
✍ J. J. Troy πŸ“‚ Article πŸ“… 1968 πŸ› Springer-Verlag 🌐 English βš– 827 KB
Variable presentation of Rothmund-Thomso
✍ Pujol, Lisa A. ;Erickson, Robert P. ;Heidenreich, Randall A. ;Cunniff, Christoph πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 154 KB

The recent finding that a subset of patients with Rothmund-Thomson syndrome (RTS) have mutations of a helicase gene has prompted reexamination of the phenotypes of individuals diagnosed with this disorder. We report on two patients with variable presentations of RTS. Initial presenting symptoms incl