Article
[Ocular phenotype in a child with chondrodysplasia punctata, rhizomelic form].
Klinische Monatsblatter fur Augenheilkunde - 1 May 1997
Sanchez E, Munier F, Evéquoz B, Marcoz J P, Balmer A
Abstract excerpt
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-link...
Topics
- Cataract
- Child
- Chondrodysplasia Punctata, Rhizomelic
- Chromosome Aberrations
- Chromosome Disorders
- Consanguinity
- Follow-Up Studies
- Genes, Recessive
- Humans
- Lenses, Intraocular
- Male
- Phenotype