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Bloom's syndrome. Possible pitfalls in clinical diagnosis

Vanderschueren-Lodeweyckx, M.; Fryns, J.P.; Van den Berghe, H.; Eggermont, E.; Eeckels, R.

American Journal of Diseases of Children 138(9): 812-816

1984

ISSN/ISBN: 0002-922X
PMID: 6433702
Document Number: 241773
Two patients with Bloom's syndrome were treated and extensive endocrine studies were conducted. In 1 patient, longitudinal growth, pubertal development and the effect of exogenous human growth hormone on growth velocity were studied. Establishing a diagnosis of Bloom's syndrome is difficult in clinical practice. Measurement of the frequency of sister chromatid exchanges is essential in patients with growth retardation of intrauterine origin.

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