| chondrodysplasia punctata, rhizomelic | An autosomal recessive form of chondrodysplasia punctata characterised 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. (12 Dec 1998) |
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