Characteristic craniofacial appearance and brachytelephalangy in a mother and son with Kallman syndrome in the son.
We report on a mother and son with a similar facies characterized by a square forehead, small nose, telecanthus, and thin upper lip. They both had a similar metacarpal-phalangeal profile characterized by marked brachytelephalangy. They were both short in comparison to other family members, and the son had hypogonadotropic-hypogonadism and anosmia. We favor the hypothesis of a single autosomal dominant gene with variable expression of the hypogonadism and anosmia, although there are alternative explanations for the combination.
D000293:Adolescent; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005786:Gene Expression Regulation; D005799:Genes, Dominant; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D000857:Olfaction Disorders / Q000235:genetics*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*