[Micromelic type of spondylo-meta-epiphyseal dysplasia (author's transl)].
A 3 6/12 years old girl with micromelic type of spondylo-meta-epiphyseal dysplasia combined with hepatosplenomegaly and muscular hypotonia is described.
D002675:Child, Preschool; D004392:Dwarfism / Q000175:diagnosis*; D005260:Female; D006529:Hepatomegaly / Q000150:complications; D006801:Humans; D009123:Muscle Hypotonia / Q000150:complications; D013163:Splenomegaly / Q000150:complications
Mikromele Form der Spondylo-meta-epiphysären Dysplasie.