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chondrodysplasia punctata

  1. Subject h.chondrodysplasia punctata
    Subject h.Chondrodysplasia Punctata
    Entry termschondrodysplázia kalcifikovaná kongenitálna
    Conradiho-Hünermanov syndróm
    dysplasia epiphysialis punctata
    chondrodysplasia calcificans congenita
    English X referencesChondrodystrophia Calcificans Congenita
    Conradi-Hunermann Syndrome
    Dysplasia Epiphysialis Punctata
    Epiphyses, Stippled
    Stippled Epiphyses
    Scope note in EnglishA 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.
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