Mesomelic dwarfism Langer type associated to mixed gonadal dysgenesis, with karyotype 46,XY/45 X Academic Article uri icon

abstract

  • Authors present a case of Langer type mesomelic dwarfism in a six months infant, who presented preferentially a mesomelic affection of the limbs, with a typical shortening and deformity of the ulna, radius, tibia and fibula. Articular alteration of the phalanxes of both hands has not been found described in the literature revised. The inusual association of intersexual condition, which corresponds to a Shoval mixed gonadal dysgenesis, with cariotype 46,XY/45 X seems of great interest.

publication date

  • January 1, 1979