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