| 单词 | Punctata,Rhizomelic Chondrodysplasia |
| 释义 | Punctata,Rhizomelic Chondrodysplasia《英文msh词典》Punctata,Rhizomelic Chondrodysplasia [入口词] Punctata,Rhizomelic Chondrodysplasia [主题词] Chondrodysplasia Punctata,Rhizomelic [英文释义] 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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