[Trichorhinophalangeal syndrome (Giedion)].
Three cases of the Tricho-rhyno-phalangeal syndrome (TRF) are described. Two cases were in the same family with some affected membres (Camacho et al., 1978). The third case, of sporadic presentation, showed radiological signs of Perthes' disease. All cases presented the main clinic and radiologic alterations of the TRF syndrome: hypotrichia, pear-shaped nose and cone shaped epiphyses. Some of them presented other characteristic features such as: darwism, prominent nose, elonged philtrum, thin upper lip, baldness of the external 1/2 eyebrows, prominent ears of low implantation, shortening of some fingers (of metacarpals and metatarsal), onicodystrophy, etc. The differential diagnosis must be stablished with: a) congenital processes which present facial abnormalities, specially of the nose, b) congenital atrichias o hypotrichias associated to osteoarticular troubles of the growth and c) congenital syndromes with epiphyses in cone (peripheric dysostosis). Finally, we find, by scanning electron microscope studies, an increase of the cuticular cells in detachment, an inespecific sign that denotes a special lability of these patients' hair to the action of the outside agents on it.
D000293:Adolescent; D000328:Adult; D000505:Alopecia / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004838:Epiphyses; D005260:Female; D006801:Humans; D007039:Hypotrichosis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome
Síndropme tricorrinofalángico (Giedion).