Literature DB >> 2196075

Rothmund-Thomson syndrome: a report of two patients and a review of the literature.

C Moss1.   

Abstract

Two siblings with poikiloderma, short stature and other abnormalities are described. They were originally reported as having Morquio syndrome; subsequently, mucopolysaccharidosis was excluded biochemically and they were classified as 'a newly recognized syndrome of connective tissue dysplasia'. It is now clear that their disorder is the Rothmund-Thomson syndrome (RTS).

Entities:  

Mesh：

Year:  1990        PMID： 2196075     DOI： 10.1111/j.1365-2133.1990.tb06272.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


  6 in total

1.  Case report 760. Osteoblastic osteosarcoma (grade 4) with Rothmund-Thomson syndrome.

Authors:  F H Sim; E M DeVries; J S Miser; K K Unni
Journal:  Skeletal Radiol       Date:  1992       Impact factor: 2.199

Review 2.  Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.

Authors:  Michael F Walsh; Vivian Y Chang; Wendy K Kohlmann; Hamish S Scott; Christopher Cunniff; Franck Bourdeaut; Jan J Molenaar; Christopher C Porter; John T Sandlund; Sharon E Plon; Lisa L Wang; Sharon A Savage
Journal:  Clin Cancer Res       Date:  2017-06-01       Impact factor: 12.531

3.  Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.

Authors:  B Kerr; G S Ashcroft; D Scott; M A Horan; M W Ferguson; D Donnai
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

Review 4.  Rothmund-Thomson syndrome.

Authors:  Lidia Larizza; Gaia Roversi; Ludovica Volpi
Journal:  Orphanet J Rare Dis       Date:  2010-01-29       Impact factor: 4.123

5.  Rothmund-thomson syndrome: a 13-year follow-up.

Authors:  Guillermo Antonio Guerrero-González; Sylvia Aideé Martínez-Cabriales; Aideé Alejandra Hernández-Juárez; José de Jesús Lugo-Trampe; Nelly Alejandra Espinoza-González; Minerva Gómez-Flores; Jorge Ocampo-Candiani
Journal:  Case Rep Dermatol       Date:  2014-07-11

6.  Atypical meningioma as a solitary malignancy in a patient with Rothmund-Thompson syndrome.

Authors:  Niv Pencovich; Nevo Margalit; Shlomi Constantini
Journal:  Surg Neurol Int       Date:  2012-12-14
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.