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Keywords:

  • short stature;
  • growth hormone;
  • deficiency;
  • Brachmann-de Lange syndrome

Abstract

Growth in 30 patients with Brachmann-de Lange syndrome (BDLS) was evaluated and found to be deficient in 27/30, with 17/27 having intrauterine growth retardation (IUGR). In 12/27 Patients, endocrine evaluations have been completed. Seven of 12 were normal and 4/12, one with empty sella, had “classical” growth hormone deficiency with extreme short stature, markedly delayed skeletal maturation and subnormal growth hormone secretion in response to provocative stimuli. One of 12 patients had discordance between insulin growth factor I levels and growth hormone responses to insulin and clonidine suggestive of end organ resistance to growth harmone. It appears that the hypothalmamic-pituitary function is compromised in at least some BDLS patients. Thus, endocrine evaluations are warranted for the patients with short stature. © 1993 Wiley-Liss, Inc.