title: Optic nerve hypoplasia in chondrodysplasia punctata.
abstract: A case of optic nerve hypoplasia in the Conradi-Hunermann form of chondrodysplasia punctata is reported. This is the first published report of such a case. The authors suggest that optic nerve hypoplasia in chondrodysplasia punctata may be the significant lesion of the optic nerve rather than atrophy as has been previously reported.
mesh_terms: D002806:Chondrodysplasia Punctata; D000013:Congenital Abnormalities / Q000175:diagnosis; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008297:Male; D009896:Optic Atrophy / Q000175:diagnosis; D009900:Optic Nerve / Q000002:abnormalities*