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
Auteur(s)
Sanchez  E., Munier  F., Evequoz  B., Marcoz  J. P., Balmer  A.
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
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 12:54
Dernière modification de la notice
20/08/2019 14:01
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