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Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from Fanconi anaemia.

Abstract
A male infant is reported with congenital dyskeratosis and pancytopenia Zinsser-Engman-Cole. The bone marrow pathology showed similarities to Fanconi anaemia. Ophthalmological complications were vitreous haemorrhage, haemorrhagic cataracta complicata and glaucoma. Spontaneous and diepoxybutane-induced chromosomal fragility was within the range of normal cells but was elevated through induction with 4-nitroquinoline-oxide. These findings are contrasted with those of Fanconi anaemia.
AuthorsA Schneider, U Mayer, E Gebhart, D Harms, J Gromball, U Glöckel, J D Beck
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 148 Issue 1 Pg. 37-9 (Oct 1988) ISSN: 0340-6199 [Print] GERMANY, WEST
PMID3197732 (Publication Type: Case Reports, Journal Article)
Topics
  • Anemia, Aplastic (diagnosis)
  • Diagnosis, Differential
  • Eye Diseases (complications)
  • Fanconi Anemia (diagnosis)
  • Humans
  • Infant
  • Male
  • Pancytopenia (complications, diagnosis)
  • Pigmentation Disorders (complications, diagnosis)
  • Syndrome

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