[Tricho-rhino-phalangeal syndrome. Four family cases].
The tricho-rhino-phalangeal syndrome was described in 1966 by Giedion. It is a hereditary disease with a dominant autosomic transmission. The authors describe a family with 7 cases, 4 of which were thoroughly studied. No chromosomic or biochemical error is known. However, x-rays of a young man in this family led us to classify this anomaly among the minor epiphyseal dysplasias related to the peripheral dysostosis of Braislford and clearly distinct Thieman's disease acquired by manual labor.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D004838:Epiphyses / Q000002:abnormalities; D005260:Female; D005384:Finger Joint / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities*; D006197:Hair / Q000002:abnormalities*; D006618:Hip Dislocation, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010007:Osteochondritis / Q000235:genetics; D010375:Pedigree; D013577:Syndrome
Le syndrome tricho-rhino-phalangien. A propos de quatre observations familiales.