The trichorhinophalangeal syndrome. Report of 4 familial cases belonging to 4 generations.
Four familial cases of trichorhinophalangeal syndrome have been observed. These four and five other possible cases in the same family confirm the autosomal dominant inheritance and show a wide clinical expressivity. The radiological study of case 1 also confirms the existence of a characteristic generalized bone dysplasia. This syndrome bears in itself short stature of unknown etiology with normal growth hormone production. The skeletal deformities doe not affect the physical activity, and life span is not reduced.
D000328:Adult; D000368:Aged; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006197:Hair / Q000032:analysis; D006801:Humans; D008875:Middle Aged; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome; D015032:Zinc / Q000032:analysis
D015032:Zinc