Tricho-rhino-phalangeal syndrome in five successive generations: Report on a family in Finland.
A family of 11 members with tricho-rhino-phalangeal syndrome (TRP syndrome) is described. The inheritance in five successive generations was autosomal dominant. The main features of the TRP syndrome noted were: sparse hair, pear-shaped nose and joint deformity with cone-shaped epiphyses at some of the middle phalanges of the hands.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002675:Child, Preschool; D004838:Epiphyses; D005260:Female; D005384:Finger Joint; D005387:Finland; D005799:Genes, Dominant; D006197:Hair; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome