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We experienced a familial case of Tricho-Rhino-Phalangeal syndrome in a 12-year-6-month-old girl, her younger sister and father.
The diagnosis was made by family history history, characteristic morphologic clinical features of bulbous nose, sparse thin hair and deformity of hand and radiologic findings of cone shape epiphyses and Legg-perthes like change of right femoral capital epiphysis. A brief review of the... |
