Word: mckusick
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Whether a whole chromosome or a single gene or a group of genes is responsible, genetic defects can affect every part of the human body and the mind. Dr. Victor McKusick of Johns Hopkins, the world's leading expert on dwarfism, supplied a forbidding list: abnormalities of the skeleton, of the innumerable enzyme systems, of the nervous system, of blood cells, both red and white, of clotting mechanisms, of the hormone systems, of the kidneys, of the intestinal tract, and of the muscles. The eyes and ears are also susceptible-there are about 40 varieties of hereditary deafness, said...
...lawn party and a whirl of dances may seem like a Barnum and Bailey act, but last week that many members of an organization called the Little People of America convened in Baltimore for medically scientific as well as social reasons. The hosts were Dr. Victor A. McKusick and 15 colleagues at the Moore Clinic of Johns Hopkins Hospital, the nation's leading investigators into the causes of dwarfism and possible remedies for it. Their invited guests were essential past and future participants in Moore Clinic research...
Medically Oriented. McKusick's team had already examined most of the association members, piecing together family trees, taking blood and cell specimens to study chromosomes and hormones and X-raying joints to look at cartilage-bone defects. A great deal of work remains to be done, so 18 Little People arrived days ahead of time. They were admitted to the hospital for detailed tests by orthopedists, ophthalmologists, and otolaryngologists. Especially concerned were the gynecologists, for dwarf women's babies usually have to be delivered by caesarean section. Of the dozen conventions the Little People have had, this...
...this work is necessary, says McKusick, because to treat or prevent dwarfism it first must be clearly defined. That is not as easy as it sounds. Beyond the rough classification of midgets as people of short but otherwise normal body build, and dwarfs as having some other physical abnormality in addition to short stature, McKusick lists 20 different conditions as causes of subnormal growth. Among the conventioneers, he found at least one representative of almost all the types, and some who appeared to fit no known category, suggesting that the classification table will now have to be extended...
...have," says McKusick, "been paying special attention to the children, whose growth is not complete, whose epiphyses [the growing ends of long bones] haven't yet closed. We have more than 30 of them here." The hope is that some of these children can be helped, by injections of human growth hormone, to grow to 5 ft. or more, in which case they would no longer qualify as Little People...