Dr. Victor A. McKusick and the genetics of dwarfism

When Dr. Victor McKusick was awarded the Lasker prize in 1997, he wrote a commentary on his 50 years of observations concerning intestinal polyposis, Marfan syndrome, and achondroplasia. He notes in that paper that achondroplasia came to his interest early in his studies of medical genetics, in keeping with his interest with the heritable disorders of connective tissue. His studies of the Old Order Amish began in 1963, in part, because of a report that achondroplastic dwarfism was unusually frequent in that population. Because achondroplasia is an autosomal dominant disorder with more than 80% of cases arising as a result of new mutations, McKusick postulated that the skeletal dysplasia in the Amish was another condition inherited as an autosomal recessive trait.