Familial tricho-rhino-phalangeal syndrome Type II

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Abstract
Two cases, a father and daughter, with all the principal signs of tricho-rhino-phalangel syndrome Type II are described, although 9 previously reported cases were all sporadic. These 2 patients have a genetic disorder with an autosomal dominant mode of inheritance. A patient with relatively mild mental retardation, such as the father in the present report, apparently could marry and have offspring. Generalized aminoaciduria was found in the affected daugher.

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