Phenotype oculaire chez un enfant atteint d'une chondrodysplasia punctata, forme rhizomelique. [Ocular phenotype in a child with chondrodysplasia punctata, rhizomelic form]
Détails
ID Serval
serval:BIB_4CB3C1A4C68E
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Phenotype oculaire chez un enfant atteint d'une chondrodysplasia punctata, forme rhizomelique. [Ocular phenotype in a child with chondrodysplasia punctata, rhizomelic form]
Périodique
Klinische Monatsblatter fur Augenheilkunde
ISSN
0023-2165 (Print)
Statut éditorial
Publié
Date de publication
05/1997
Volume
210
Numéro
5
Pages
329-31
Notes
Case Reports
English Abstract
Journal Article --- Old month value: May
English Abstract
Journal Article --- Old month value: May
Résumé
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-Hunermann 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.
Mots-clé
Cataract/diagnosis/*genetics
Child
Chondrodysplasia Punctata, Rhizomelic/diagnosis/*genetics/surgery
Chromosome Aberrations/genetics
Chromosome Disorders
Consanguinity
Follow-Up Studies
Genes, Recessive/genetics
Humans
Lenses, Intraocular
Male
*Phenotype
Pubmed
Web of science
Création de la notice
28/01/2008 13:54
Dernière modification de la notice
20/08/2019 15:01