title: 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.
authors.affiliation: Abteilung für Kinderheilkunde, Universität Erlangen-Nürnberg, Federal Republic of Germany.
authors.forename: A
authors.initials: A
authors.lastname: Schneider
authors.forename: U
authors.initials: U
authors.lastname: Mayer
authors.forename: E
authors.initials: E
authors.lastname: Gebhart
authors.forename: D
authors.initials: D
authors.lastname: Harms
authors.forename: J
authors.initials: J
authors.lastname: Gromball
authors.forename: U
authors.initials: U
authors.lastname: Glöckel
authors.forename: J D
authors.initials: JD
authors.lastname: Beck
mesh_terms: D000741:Anemia, Aplastic / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000150:complications; D005199:Fanconi Anemia / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D010198:Pancytopenia / Q000150:complications / Q000175:diagnosis*; D010859:Pigmentation Disorders / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome