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.
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Authors | A Schneider, U Mayer, E Gebhart, D Harms, J Gromball, U Glöckel, J D Beck |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 148
Issue 1
Pg. 37-9
(Oct 1988)
ISSN: 0340-6199 [Print] Germany |
PMID | 3197732
(Publication Type: Case Reports, Journal Article)
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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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