[Ocular phenotype in a child with chondrodysplasia punctata, rhizomelic form]

Klin Monbl Augenheilkd. 1997 May;210(5):329-31. doi: 10.1055/s-2008-1035067.
[Article in French]

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Cataract / diagnosis
  • Cataract / genetics*
  • Child
  • Chondrodysplasia Punctata, Rhizomelic / diagnosis
  • Chondrodysplasia Punctata, Rhizomelic / genetics*
  • Chondrodysplasia Punctata, Rhizomelic / surgery
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Consanguinity
  • Follow-Up Studies
  • Genes, Recessive / genetics
  • Humans
  • Lenses, Intraocular
  • Male
  • Phenotype*