Word: achondroplasia
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...about 75,000 of these glands, mostly from pathologists exploring the skull in postmortem examinations. The agency supplies the Hopkins with extracts from the glands. It takes the hormone from 150 or more glands to treat one child for a year. For victims of the commonest type of dwarfism, achondroplasia, marked by short limbs, large heads and "scooped out" noses, no hormonal or other treatment is effective...
...also transmitted through a recessive gene, is the new form of dwarfism found by Dr. McKusick among the Amish in more than a dozen communities. It is a new kind of genetic defect. Doctors who earlier noticed cases of this kind of dwarfism among the Amish mistook it for achondroplasia, a form made familiar by Velásquez's paintings of dwarfs as court jesters, with short arms and legs, a large head and a "scooped-out" nose. But Dr. McKusick's team found significant differences. These Amish dwarfs do not have big heads or misshapen noses. Aside...
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