Definição:
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 (), 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.
Sinônimos:
Condrodistrofia Calcificante Congênita /
Displasia Epifisária Punctata /
Epifises Ponteadas /
SÃndrome de Conradi-Hunermann /
DOENÇAS
Doenças Musculosqueléticas