About The Medical Condition Punctata, Rhizomelic Chondrodysplasia
Find the definition of the medical term Punctata, Rhizomelic Chondrodysplasia. Punctata, Rhizomelic Chondrodysplasia defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Punctata, Rhizomelic Chondrodysplasia
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What's The Definition Of The Medical Condition Punctata, Rhizomelic Chondrodysplasia?
An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondrial bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
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