Term: hypochodroplasia
Literally meaning: “diminished
cartilage formation”
Origin: Anc Greek
υπό-/hypo-
(prefix meaning "under", "beneath", "less", “diminished”)
+χόνδρος/chondros
(=thick, coarse salt, soft bone,
carilages in the region
between the ribs and navel)
+πλάσσω/plasso(=to create, to form, to mold)
Coined/History
Dwarfism was known since times of ancient
Egypt as Egyptians had two dwarf gods:
Bes, the protector of sexuality/childbirth
and Ptah the protector of regeneration.
Hypochondroplasia was
probably first described by Ravenna (1913) but not generally recognized until
much later, the term being coined by Maroteaux and Lamy (1960).
Sources
Ravenna F (1913) Achondroplasie et chondrohypoplasie: contribution
clinique. N Iconogr Salpetriere 26:157–184.
Maroteaux P, Lamy M (1960) Les chondropdystrophies genotypiques. L’Expansion Scientifique
Francaise, Paris, pp 26–27.
Definition
Hypochondroplasia
(MIM 146000) is is an autosomal dominant skeletal
dysplasia characterized by short extremities, short stature and lumbar
lordosis, usually exhibiting a phenotype similar to but milder than
achondroplasia. Hypochodroplasia may be inherited as an autosomal dominant trait due
to mutations in FGFR3 gene, although
most cases occurs as spontaneous mutations in germline.
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