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  • Conradi syndrome => chondrodysplasia calcificans congenita
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  • Conradi-Hunermann syndrome => chondrodysplasia punctata, autosomal dom
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  • hereditary deforming chondrodysplasia
    À¯Àü(¼º) º¯Çü¼º ¿¬°ñ ÀÌÇü¼º(Áõ)(ë¶îîàõܨû¡àõæãÍéì¶û¡à÷ñø).
  • hereditary deforming chondrodysplasia
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  • hereditary deforming chondrodysplasia
    À¯Àü(¼º) º¯Çü¼º ¿¬°ñÀÌÇü¼º(Áõ).
  • hereditary deforming chondrodysplasia
    À¯Àü(¼º) º¯Çü¼º ¿¬°ñ ÀÌÇü¼º(Áõ)(ë¶îîàõܨû¡àõæãÍéì¶û¡à÷ñø).
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CDP chondrodysplasia punctata; chronic destructive periodontitis; collagenase-digestible protein; contin...
CDPR chondrodysplasia punctata, rhizomelic
CDPX X-linked chondrodysplasia punctata
CP candle power; capillary pressure; cardiac pacing; cardiac performance; cardiopulmonary; caudate puta...
CPXD chondrodysplasia punctata, X-linked dominant
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RCDP Rhizomelic Chondrodysplasia Punctata
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    Chondrodysplasia punctata
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chondrodysplasia <embryology, orthopaedics> A disturbance in the development of cartilage, primarily the long bones. This can result in arrested growth and dwarfism.
Origin: Gr. Plassein = to form
(15 Jan 1998)
chondrodysplasia punctata A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (chondrodysplasia punctata, rhizomelic), an autosomal dominant form (conradi-hunermann syndrome), and a milder x-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
(12 Dec 1998)
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)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 2 ÆäÀÌÁö: 1
  • Chondrodysplasia Punctata - »õâ A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
    Synonyms : Hunermann-Conradi Syndrome, Conradi Hunermann Syndrome, Hunermann Conradi Syndrome, Syndrome, Conradi-Hunermann, Syndrome, Hunermann-Conradi
  • Chondrodysplasia Punctata, Rhizomelic - »õâ An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral 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)
    Synonyms : Punctata, Rhizomelic Chondrodysplasia
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chondrodysplasia Congenital condition in which there is a mutation of a collagen-associated gene.
Ãâó: www.ilar.org/Glossary/Glossary_c.htm
chondrodysplasia A hereditary skeletal disorder characterized by improper growth of the cartilage portion of the ribs
Ãâó: www.childrenscolumbus.org/gd/gd.aspx
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