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 two 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 offspring. Generalized aminoaciduria was found in the affected daughter.