J P Fryns

Publications (2)0 Total impact

• Article: A boy with acromesomelic dysplasia. Growth course and growth hormone release.

  M Raes, M Vanderschueren-Lodeweyckx, M Haspeslagh, J S Vles, J P Fryns, R Eeckels
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  ABSTRACT: A 2 6/12-year-old boy is reported with the typical clinical and radiological features of acromesomelic dysplasia. This rare skeletal dysplasia is inherited as an autosomal recessive trait, and differential diagnosis is to be made with pseudoachondroplasia and acrodysostosis. Endocrine investigations were performed, and their results are found to be normal. Longitudinal growth reveals a very early slowing down of growth velocity.
  Helvetica paediatrica acta 01/1986; 40(5):415-20.
• Article: Bloom's syndrome. Possible pitfalls in clinical diagnosis.

  M Vanderschueren-Lodeweyckx, J P Fryns, H Van den Berghe, E Eggermont, R Eeckels
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  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.
  American journal of diseases of children (1960) 10/1984; 138(9):812-6.