Familial tricho-rhino-phalangeal syndrome Type II.
Two cases, a father and daughter, with all the principal signs of tricho-rhino-phalangeal syndrome Type II are described, although nine previously reported cases were all sporadic. It is suggested that these patients have a genetic disorder with an autosomal dominant mode of inheritance. It may be reasonable to assume that a patient with relatively mild mental retardation, such as the father in the present report, could marry and have off-spring. Generalized aminoaciduria was found in the affected daughter.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D002648:Child; D005097:Exostoses, Multiple Hereditary / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D011859:Radiography; D013577:Syndrome