chondrodysplasia


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Related to chondrodysplasia: Chondrodysplasia punctata

chondrodysplasia

[¦kän·drō·də ′splā·zhə]
(medicine)
References in periodicals archive ?
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.
van Creveld, "A syndrome characterized by ectodermal dysplasia, polydactyly, chondrodysplasia and congenital morbus cordis.
Abbreviations: CG: complementation group; CHO: Chinese hamster ovary; DHAP-ATase: dihydroxyacetonephosphate acyltransferase; DLP1: dynamin-like protein 1; IRD: infantile Refsum disease; NALD: neonatal adrenoleukodystrophy; PBD: peroxisome biogenesis disorder; PMP: peroxisomal integral membrane protein; PTS: peroxisome-targeting signal; RCDP: rhizomelic chondrodysplasia punctata; ZS: Zellweger syndrome.
In this article, we report a case of a 4-year-old boy with CAH and Schmid metaphyseal chondrodysplasia. Our literature survey confirmed that it is the first reported case of coexistence of these two rare diseases.
The main differential diagnoses in patients of multiple BCCs are Gorlin syndrome, which shows multiple carcinomas basal cell nevi, and X-linked dominant chondrodysplasia punctata, with prominent follicular atrophoderma.
Jude Peters is an adorable one-year-old boy living with a disease called rhizomelic chondrodysplasia punctata (RCDP), a rare and fatal form of dwarfism.
Frameshift mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene and severe acromesomelicchondrodysplasia resembling grebe type chondrodysplasia. Am J Med Genet 2002; 111: 31-7.
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet.
Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder of peroxisomal metabolism, with an estimated incidence 1: 100.000.
Targeted overexpression of ADAMTS-7 in chondrocytes led to chondrodysplasia characterized by short-limbed dwarfism and a delay in endochondral ossification in "young mice" and a spontaneous OA-like phenotype in "aged" mice.
Homozygous GDF5 loss of function mutation leads to a more complex alteration of the skeleton also known as the group of acromesomelic chondrodysplasia. They are clinically classified as Grebe type, Hunter-Thompson type, and the DuPan type.
During my training in medical genetics, I worked with Dr Victor McKusick, just as he was becoming involved with Little People of America (LPA), to study chondrodysplasia. In many ways, LPA is a particularly good model for how special interest patient support groups function.

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