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July 15, 1983

Solving big problems for little people

JAMA. 1983;250(3):323-330. doi:10.1001/jama.1983.03340030005004

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It's been about 20 years since Johns Hopkins geneticist Victor A. McKusick, MD, first addressed an organization known as the Little People of America (LPA) on dwarfism. McKusick's delineation of an autosomal recessive form of short-limbed dwarfism known as cartilage-hair hypoplasia among the Amish population had recently been publicized, and members of LPA were interested in learning about the causes of their short stature.

At the time, most physicians knew little about dwarfism. People with short limbs were considered to have achondroplasia; those with trunk abnormalities were thought to suffer from Morquio's syndrome.

McKusick's initial contact with the national selfhelp organization formed by short people led to a remarkable, ongoing cooperative effort between the LPA and Johns Hopkins University School of Medicine, Baltimore. As a result, a comprehensive research program sprang up at Hopkins that so far has led to the identification of nearly 100 distinct, heritable genetic conditions that

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