A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother.
A boy and his mother had dysmorphic features and accelerated growth of prenatal onset suggestive of the Weaver syndrome. Both had endocrinologic abnormalities. The boy had very low, hGH, which did not respond to stimulation. The mother had low, non-stimulate hGH hyperprolactinemia with secondary amenorrhea and galactorrhea. This is the first report of a mother to son transmission of the condition.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D004700:Endocrine System Diseases / Q000235:genetics*; D005260:Female; D005877:Gigantism / Q000235:genetics*; D013006:Growth Hormone / Q000172:deficiency; D006801:Humans; D006966:Hyperprolactinemia / Q000235:genetics; D008297:Male; D013577:Syndrome
D013006:Growth Hormone