Literature DB >> 2616389

Rothmund-Thomson syndrome: a case report.

D E Roth1, L C Campisano, J P Callen, J H Hersh, J W Yusk.   

Abstract

We present a 4-year-old girl with poikiloderma, radial aplasia, short stature, facial dysmorphism, and sparse hair. We believe these findings to be consistent with a diagnosis of Rothmund-Thomson syndrome.

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Year:  1989        PMID： 2616389     DOI： 10.1111/j.1525-1470.1989.tb00918.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


  3 in total

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

Authors:  Bethlehem Gelaw; Said Ali; Joseph Becker
Journal:  Skeletal Radiol       Date:  2004-06-09       Impact factor: 2.199

2.  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

3.  Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.

Authors:  K H Orstavik; N McFadden; J Hagelsteen; E Ormerod; C B van der Hagen
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318
  3 in total

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