Gülcan H.Keleş F.Si?irci A.2024-08-042024-08-0420040010-0161https://hdl.handle.net/11616/90373Rhizomelic chondrodysplasia punctata is an autosomal recessive disorder characterized by stippled epiphyses, rhizomelic shortening of the long bones, flexion contractures, saddle nose, hypertelorism, cataract, frontal bossing, and severe mental and motor retardation. This type is the most severe and rare form of chondrodysplasia punctata. We present a newborn who manifested the characteristic clinical and radiologic findings of rhizomelic type chondrodysplasia punctata.trinfo:eu-repo/semantics/closedAccessCataractChondrodysplasia punctataRhizomelic chondrodysplasia punctataArticle47157592-s2.0-1542514932Q4