Beschreibung:
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.
Synonym(s):
Chondrodystrophia calcificans congenita /
Chondroplasia punctata /
Dysplasia epiphysialis punctata /
Epiphyses, Stippled /
Krankheiten
Krankheiten des Bewegungsapparates