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05-25-2007, 09:27 AM
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Bones
A dwarf man comes whose extremities are small whereas his head and trunk are of normal size. He has 2 daughters and is NOT mentally challenged.What should come in your mind instantaneously.....that it is a case of?
A]Osteogenesis imperfecta B]Achondoplasia C]Osteopetrosis D]Osteitis deformans     
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05-25-2007, 12:19 PM
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A- is congenital, and they are fragil= ALOT of fractures colagen type1
B- is the answer theres a problem with fibroblast gene, they also have a defect in the chondrocytes, is AD= autosomal dominant, but also has another genetic important Hy what is it? c- You get that from kidney failure, and other diseases D- thats pagets disease
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05-25-2007, 02:44 PM
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Achondroplasia is most common cause of inherited dwarfism.It is Autosomal dominant disorder and has mutation in fibroblast growth factor receptor 3 gene.The activation of FGFR3 inhibits cartilage synthesis at the epiphysial growth plates resultimg in decreased enchondral bone formation and thus there is premature ossifiation of growth plates......long bones are affected.
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