Linked Life Data

9324546

Source:http://linkedlifedata.com/resource/pubmed/id/9324546

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1997-10-7
pubmed:abstractText
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.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0023-2165
pubmed:author
pubmed:issnType
Print
pubmed:volume
210
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
329-31
pubmed:dateRevised
2009-11-11
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
[Ocular phenotype in a child with chondrodysplasia punctata, rhizomelic form].
pubmed:affiliation
Hôpital ophtalmique Jules Gonin, Lausanne.
pubmed:publicationType
Journal Article, English Abstract, Case Reports