Physical growth in Brachmann-de Lange syndrome.
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 hormone. It appears that the hypothalamic-pituitary function is compromised in at least some BDLS patients. Thus, endocrine evaluations are warranted for the patients with short stature.
Kousseff
B G
BG
Division of Medical Genetics, University of South Florida Medical Center, Tampa.
Thomson-Meares
J
J
Newkirk
P
P
Root
A W
AW
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006130:Growth Disorders / Q000473:pathology* / Q000503:physiopathology; D013006:Growth Hormone / Q000172:deficiency / Q000378:metabolism; D006728:Hormones / Q000097:blood; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology; D007223:Infant; D008297:Male; D010641:Phenotype
D006728:Hormones; D013006:Growth Hormone