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Bone

Developmental abnormalities

Achondroplastic dwarfism


Reviewers: Dariusz Borys, M.D. (see Reviewers page)
Revised: 1 June 2012, last major update June 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.

General
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● Major cause of dwarfism
● Reduction in chondrocytes at growth plate is due to defect in fibroblastic growth factor receptor 3 gene (FGFR3)
● FGFR3 inhibits cartilage proliferation, and is constitutively active in these patients
● Autosomal dominant, but 80% of cases are new mutations

Clinical description
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● Short proximal extremities, normal trunk, enlarged head (bulging forehead, depression of root of nose)
● Normal intramembranous bone formation, so bone cortices seem thickened compared to short bone length
● Normal life, IQ, reproductive status

Micro description
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● Narrow/disorganized zones of proliferation and hypertrophy in growth plates
● Chondrocytes in clusters, not columns
● Base of growth plate has prematurely deposited struts of bone which seal the plate

Additional references
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Achondroplasia Dwarf Midget

End of Bone > Developmental abnormalities > Achondroplastic dwarfism


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