Dwarfism Achondroplasia

Sliiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, et al. Mutations in the trans-membrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994 78 335-42. 

The best-known of the chondrodysplasias is achondroplasia, the commonest cause of short-limbed dwarfism. Affected individuals have short limbs, nor-... 

The primary mutation in achondroplasia results in a defect in internalization and degradation of the mutant receptor. Thus it is retained on the ceE surface and has uncontrolled and prolonged activation in chondrocytes. Hence, chondrocyte maturation and terminal differentiation are inhibited. Following the discovery of the association between achondroplasia and FGFR3 mutations, other similar gain-of-function mutations at other sites within this gene have been identified as the cause of less common forms of dwarfism, including thanatophoric dysplasia types I and n and hypochondroplasia. ... 

Horton WA> Lunstrum GP. Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. Rev Endo Metab Dis 2002 3 381-5. 

Little People of America (LPA) is a support group for individuals with short stature that conducts many workshops and social activities. Two individuals with achondroplasia (100800), a common form of dwarfism, meet at an LPA convention and decide to marry and have children. What is their risk of having a child with dwarfism ... 

Individuals with achondroplastic dwarfism have about 80% fewer viable offspring than do normal persons, but the incidence of achondroplasia seems to have remained constant for generations. These observations imply... 

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