The tricho-rhino-phalangeal syndrome.
A family with the tricho-rhino-phalangeal syndrome was studied. One child, the proband, manifested the complete triad of the syndrome with fine, sparse, slow-growing hair, pear-shaped nose, and abnormal fingers. Cone-shaped epiphyses were observed radiographically in the child, in both parents, and in two of three remaining children.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D004838:Epiphyses / Q000002:abnormalities; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D009667:Nose Deformities, Acquired; D012871:Skin Diseases / Q000150:complications; D013577:Syndrome