Term: achodroplasia
Literally meaning: “without cartilage formation”
Origin: Anc Greek
α-/a (privative,
“non”)
+χόνδρος/chondros
(=thick, coarse salt, soft bone,
cartilages in the region
between the ribs and navel)
+πλάσσω/plasso(=to create, to form, to mold)
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Coined/History
The term
was coined in 1878, by French physician Joseph Marie Jules Parrot (1829-1883), who
also described the Egyptian god Ptah as suffering from achondroplastic
dwarfism. The word of “chondrodystrophy” which was introduced by German
physician Edward Kaufmann (1860 - 1931), was used for a long time instead
of term “achondroplasia” in
German-speaking countries” .
Definition
Achondroplasia is the a
type of short-limbed dwarfism because of reduction in cartilage production and
replacement by mucoid regeneration Achodroplasia may be inherited as an
autosomal dominant trait due to mutations in FGFR3 gene, although most cases occurs as spontaneous mutations in
normal parents.
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