[The trichorhinophalangeal syndrome. Report of a family with 14 carriers of characteristics in 5 generations].
This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generations points to dominant heredity.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D003093:Colitis, Ulcerative / Q000209:etiology; D004485:Eczema / Q000209:etiology; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006042:Goiter / Q000209:etiology; D006197:Hair / Q000002:abnormalities*; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D008875:Middle Aged; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D011859:Radiography; D013577:Syndrome
Das trichorhinophalangeale Syndrom. Bericht über eine Familie mit 14 Merkmalsträgern in 5 Generationen.