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Achondroplasia PatientPlus

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Location: http://www.patient.co.uk/showdoc/40001123/

Description: Achondroplasia is the most frequent form of short-limb dwarfism. As well as short stature due to shortening of limbs, affected individuals have characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension and genu varum and trident hands. Incidence increases with paternal age. Achondroplasia is caused by constitutively activated point-mutated fibroblast growth factor receptor 3 (located at 4p16.3) - epiphyseal growth cartilage fails but with normal bone formation and repair.

Type: Reference Material
Author/Contact: Not Available
Institution: PatientPlus
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Language: English

Submitted by: admin
Hits: 212
Added: Mon May 25 2009