Literature DB >> 2616390

Rothmund-Thomson syndrome in two siblings.

A Nanda1, A J Kanwar, M M Kapoor, D M Thappa, B D Radotra, C Vaishnavi, S Kaur.   

Abstract

Rothmund-Thomson syndrome, a rare autosomal recessive disorder, is characterized by photosensitivity; specific skin changes including poikiloderma, atrophy, and telangiectases; juvenile cataracts; short stature; and bone defects. We describe two siblings with this syndrome.

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Year:  1989        PMID: 2616390     DOI: 10.1111/j.1525-1470.1989.tb00919.x

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


  1 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

  1 in total

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