| CDPR | chondrodysplasia punctata, rhizomelic |
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| RCDP | rhizomelic chondrodysplasia punctata |
| RCDP | Rhizomelic Chondrodysplasia Punctata |
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| 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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| rhizomelic |
proximal shortening; shortening at the end of the bone closest to the trunk (humerus, femur)
Ãâó: medical.lpaonline.org/glossary/
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| rhizomelic spondylosis |
Ankylosis interfering with movements of the hips and shoulders.
Ãâó:
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| rhizomelic d. |
one with an autosomal recessive form of chondrodysplasia punctata, characterized by symmetric shortening of the limbs, cataracts, optic atrophy, mental retardation, fibrous joint contractures, and ichthyosis; it is lethal in early childhood.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| rhizomelic s. |
ankylosing spondylitis.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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