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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Osteochondrodysplasias > Chondrodysplasia Punctata
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Osteochondrodysplasias > Chondrodysplasia Punctata

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Chondrodysplasia Punctata  

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Tipo

  • mesh:Descriptor

Definición

  • A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.

Concepto genérico

Conceptos específicos

Etiquetas alternativas

  • Chondrodystrophia Calcificans Congenita
  • Dysplasia Epiphysialis Punctata
  • Epiphyses, Stippled
  • Stippled Epiphyses

En otras lenguas

  • Chondrodysplasie ponctuée

    francés

  • Chondrodysplasie congénitale calcifiante
  • Chondrodystrophie calcifiante congénitale
  • Dysplasie épiphysaire ponctuée
  • Maladie congénitale des épiphyses ponctuées
  • Maladie des épiphyses ponctuées

URI

http://data.loterre.fr/ark:/67375/JVR-TQZCZJ4M-P

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