[Congenital spondylo-epiphyseal dysplasia: follow-up of a case over 9 years (author's transl)].
A girl with the symptoms of dysplasia spondyloepiphysaria congenita has been observed during 9 years. The progressively severe alterations of the skeleton are demonstrated and briefly discussed.
D000015:Abnormalities, Multiple; D001827:Body Height; D001835:Body Weight; D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004392:Dwarfism; D004838:Epiphyses / Q000002:abnormalities*; D005121:Extremities / Q000254:growth & development; D005260:Female; D005500:Follow-Up Studies; D006257:Head / Q000254:growth & development; D006801:Humans; D007223:Infant; D007738:Kyphosis; D017880:Limb Deformities, Congenital; D010384:Pelvic Bones / Q000002:abnormalities; D012600:Scoliosis; D013131:Spine / Q000002:abnormalities*
Dysplasia spondyloepiphysaria congenita. Verlaufsbeobachtung eines Falles über 9 Jahre