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Possible Pitfalls in Clinical Diagnosis

Magda Vanderschueren-Lodeweyckx, MD; Jean-Pierre Fryns, MD; Herman Van den Berghe, MD; Ephrem Eggermont, MD; Roger Eeckels, MD

Am J Dis Child. 1984;138(9):812-816.

Abstract
• We treated two patients with Bloom's syndrome and conducted extensive endocrine studies. In one patient, we studied longitudinal growth and pubertal development and the effect of exogenous human growth hormone on growth velocity. 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.

(AJDC 1984;138:812-816)

Author Affiliations
From the Department of Pediatrics (Drs Vanderschueren-Lodeweyckx, Eggermont, and Eeckels) and the Division of Human Genetics (Drs Fryns and Van den Berghe), University of Leuven, Belgium.

Footnotes
Reprint requests to AZ Gasthuisberg Kinderziekenhuis, Herestraat, 49, B-3000 Leuven, Belgium (Dr Vanderschueren-Lodeweyckx).

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