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Rhizomelic chondrodysplasia punctata - Genetics - MedlinePlus
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2010/7/1 -Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body.
Rhizomelic Chondrodysplasia Punctata - Symptoms, Causes ...
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2023/11/30 -Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder associated with a deficiency of ether-type lipids called plasmalogens that affect ...
Achondroplasia is the most common form of short limb dwarfism in humans. The shortening of the limb lengths in achondroplasia is widely described as ...
Rhizomelia - Wikipedia
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According to Stedman's medical dictionary "rhizomelic" means "relating to hip or shoulder joints", while "micromelic" means "having disproportionately short or ...
2001/11/16 -Rhizomelic chondrodysplasia punctata type 1 (RCDP1), a peroxisome biogenesis disorder (PBD) has a classic (severe) form and a nonclassic (mild) ...
Rhizomelic chondrodysplasia punctata - Orphanet
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Disease definition. A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and ...
Rhizomelic dwarfism | Radiology Reference Article | Radiopaedia.org
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2021/6/18 -Rhizomelic dwarfism is a type of dwarfism where the dominant feature is proximal (i.e. femoral and humeral) limb shortening. On this page:.
Rhizomelic chondrodysplasia punctata - Wikipedia
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Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs (rhizomelia), seizures, ...
The neurology of rhizomelic chondrodysplasia punctata
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2013/10/30 -Background. Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder of peroxisomal metabolism, with an estimated incidence of 1:100.000.
Rhizomelic chondrodysplasia punctata type 1 - Myriad Genetics
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Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is an inherited disease that causes small physical size, certain characteristic bone problems, ...