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