Achondroplasia: Background information when reading Big Girl Small

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Big Girl Small

A Novel

By Rachel DeWoskin

Big Girl Small
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  • Hardcover: May 2011,
    304 pages.
    Paperback: Jul 2012,
    304 pages.

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Beyond the Book:
Achondroplasia

In Rachel DeWoskin's novel, Big Girl Small, Judy Lohden has achondroplasia, a genetic bone growth disorder that results in short-limbed dwarfism (responsible for about 70% of all dwarfism cases). The word "achondroplasia" literally means "without cartilage formation," however, the term is a bit of a misnomer as the body of a person with achondroplasia is able to form cartilage but then fails to convert it to bone (especially in the long bones, i.e. arms and legs). This happens when there is a mutation of the FGFR3 gene (the gene responsible for producing a protein that develops and maintains the growth of bone and brain tissue), which then causes disruptions in skeletal development.

Affecting 1 out of every 15,000 - 40,000 births, a person can get the gene one of two ways - via genetic mutation or by inheriting the gene from one or both parents. According to the U.S. National Library of Medicine, achondroplasia "is inherited in an autosomal dominant pattern, which means one copy of...

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