Familial tricho-rhino-phalangeal syndrome Type II

Abstract

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.