Literature DB >> 8346112

Rothmund-Thomson syndrome associated with annular pancreas and duodenal stenosis: a case report.

H S Blaustein1, A W Stevens, P D Stevens, M E Grossman.   

Abstract

The Rothmund-Thomson syndrome is a rare autosomal recessive condition. It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and hyperkeratosis. There is only one published case of associated gastrointestinal abnormalities. We report a patient with Rothmund-Thomson syndrome with annular pancreas and duodenal stenosis.

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Year:  1993        PMID: 8346112     DOI: 10.1111/j.1525-1470.1993.tb00046.x

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


  4 in total

1.  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

2.  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

Review 3.  Rothmund-Thomson syndrome.

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

4.  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
  4 in total

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