About The Medical Condition Chondrodystrophia Calcificans Congenita
Find the definition of the medical term Chondrodystrophia Calcificans Congenita. Chondrodystrophia Calcificans Congenita defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Chondrodystrophia Calcificans Congenita
Chondrodystrophia Calcificans Congenita Medical Condition |
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What's The Definition Of The Medical Condition Chondrodystrophia Calcificans Congenita?
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.
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