[Mesomelic dwarfism Langer type associated to mixed gonadal dysgenesis, whit cariotipe 46,XY/45 X (author's transl)].
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000150:complications / Q000235:genetics*; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007621:Karyotyping; D017880:Limb Deformities, Congenital; D008297:Male
Nanismo mesomélico tipo Langer asociado a disgenesia gonadal mixtra (Shoval) con cariotipo 46,XY/45 X. A propósito de una observación.