Word: mckusick
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...Cornell, Hardin didn't take the wrong turn, he took the wrong man. He tried to keep pace with a Cornell freshman named McKusick, but McKusick was on his way to the most sensational Ivy running performance of the year. He broke the record of Steve Machooka, Cornell '60, who Coach Bill McCurdy referred to yesterday as "one of those phantoms who pops up from time to time in the Ivy League...
...such a group, to survive is to inbreed, and the Amish have more than survived; they now number 44,000. In 1963, to take advantage of this unique opportunity into the land of the black buggy, the beard and the modest bonnet went Johns Hopkins' Dr. Victor A. McKusick, an epidemiologist as well as a geneticist. And last week at Bar Harbor out came a detailed report on two forms of dwarfism, one recognized only a generation ago, the other brand-new to medical science...
...Lancaster County around a town called Intercourse. Named the "Ellis-van Creveld Syndrome" after the Scottish and Dutch pediatricians who first reported it in 1940, it has no common name and is so uncommon elsewhere in the world that only about 50 cases had been reported until McKusick's Hopkins team moved into Pennsylvania. There they found proof of at least 49 cases since 1860, with 24 still living. Most exciting, genetically at least: the Amish keep such exact genealogical records that McKusick was able to trace all 60 parents to whom the 49 were born. And all were...
Snipped Fingers. The first known case, said Dr. McKusick at Bar Harbor, was born in 1860. Though the Amish average a couple of inches shorter than the general U.S. population, there is no mistaking the deformity. Ellis-van "Creveld dwarfs range in height from only 40 to 60 inches. They have six fingers on each hand, the extra one being on the outside of the hand beyond the little finger. Sometimes (but not consistently) there is a sixth toe on one foot or both. Although it is not conspicuous at birth, many dwarf babies have an abnormal heart with only...
Fine Hair. Equally bizarre, and 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...