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An Esp Pediatr ; 12(12): 897-904, 1979 Dec.
Article in Spanish | MEDLINE | ID: mdl-533057

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.


Subject(s)
Abnormalities, Multiple/genetics , Dwarfism/genetics , Gonadal Dysgenesis, 46,XY/genetics , Gonadal Dysgenesis/genetics , Diagnosis, Differential , Dwarfism/complications , Gonadal Dysgenesis, 46,XY/complications , Gonadal Dysgenesis, 46,XY/pathology , Humans , Infant , Karyotyping , Limb Deformities, Congenital , Male
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