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

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)
  • Anemia, Aplastic (diagnosis)
  • Diagnosis, Differential
  • Eye Diseases (complications)
  • Fanconi Anemia (diagnosis)
  • Humans
  • Infant
  • Male
  • Pancytopenia (complications, diagnosis)
  • Pigmentation Disorders (complications, diagnosis)
  • Syndrome

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!

Choose Username:
Verify Password: