title: [Ocular phenotype in a child with chondrodysplasia punctata, rhizomelic form].
abstract: Chondrodysplasia calcificans punctata (CDP) is a rare congenital syndrome characterized by calcific stippling of the hyaline cartilage. CDP is classified into 4 types: the autosomal dominant Conradi-Hünermann type, the autosomal recessive rhizomelic type, the X-linked dominant form and the X-linked recessive form. We present a child affected with a rhizomelic CDP born from consanguinous parents. The ocular phenotype consisted of microphakia associated with a progressive bilateral "cataracta cortico-zonularis suturata". At 11 years of age, a phacoemulsification and intraocular lens implantation was performed in the left eye.
authors.affiliation: Hôpital ophtalmique Jules Gonin, Lausanne.
authors.forename: E
authors.initials: E
authors.lastname: Sanchez
authors.forename: F
authors.initials: F
authors.lastname: Munier
authors.forename: B
authors.initials: B
authors.lastname: Evéquoz
authors.forename: J P
authors.initials: JP
authors.lastname: Marcoz
authors.forename: A
authors.initials: A
authors.lastname: Balmer
mesh_terms: D002386:Cataract / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003241:Consanguinity; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007910:Lenses, Intraocular; D008297:Male; D010641:Phenotype