Abstract
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.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Bellus GA, McIntosh I, Smith EA et al (1995) A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 10:357–359
Bergsma D, McKusick VA, Dorst JP, Scott CI (eds) (1969) The first conference on the clinical delineation of birth defects. Part IV. Skeletal dysplasias. Birth Defects Orig Art Ser, Roswell Eldridgees 5(4):1–396
Hall JG, Dorst JP, Rotta J, McKusick VA (1987) Gonadal mosaicism in pseudoachondroplasia. Am J Med Genet 28:143–151
James AE Jr, Dorst JP, Mathews ES, McKusick VA (1972) Hydrocephalus in achondroplasia studied by cisternography. Pediatrics 49:46–49
Kopits SE, Lindstrom JA, McKusick VA (1974) Pseudoachondroplastic dysplasia: pathodynamics and management. Birth Defects Orig Artic Ser 10:341–352
McKusick VA, Egeland JA, Eldridge R, Krusen DE (1964) Dwarfism in the Amish I. The Ellis-Van Creveld syndrome. Bull Johns Hopkins Hosp 115:306–336
McKusick VA, Eldridge R, Hostetler JA, Ruangwit U, Egeland JA (1965) Dwarfism in the Amish. II. Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp 116:285–326
McKusick VA, Mahloudji M, Abbott MH, Lindenberg R, Kepas D (1967) Seckel’s bird-headed dwarfism. N Engl J Med 277:279–286
McKusick VA (1969) The nosology of the mucopolysaccharidoses. Am J Med 47:730–747
McKusick VA (1969) On lumpers and splitters, or the nosology of genetic disease. Perspect Biol Med 12:298–312
McKusick VA, Kelly TE, Dorst JP (1973) Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. J Med Genet 10:11–16
McKusick VA (1997) Observations over 50 years concerning intestinal polyposis, Marfan syndrome and achondroplasia. Nat Med 3:1065–1068
McKusick VA (2000) Ellis-van Creveld syndrome and the Amish. Nat Genet 24:203–204
Merimee TJ, Rimoin DL, Cavalli-Sforza LC, Rabinowitz D, McKusick VA (1968) Metabolic effects of human growth hormone in the African pygmy. Lancet 2:194–195
Merimee TJ, Rimoin DL, Rabinowitz D, Cavalli-Sforza LL, McKusick VA (1968) Metabolic studies in the African pygmy. Trans Assoc Am Physicians 81:221–230
Miller JD, McKusick VA, Malvaux P, Temtamy S, Salinas C (1975) The 3-M syndrome: a heritable low birthweight dwarfism. Birth Defects Orig Artic Ser 11:39–47
Murdoch JL, Walker BA, Hall JG, Abbey H, Smith KK, McKusick VA (1970) Achondroplasia – a genetic and statistical survey. Ann Hum Genet 33:227–244
Rimoin DL, Fletcher BD, McKusick VA (1968) Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism. Am J Med 45:948–953
Rimoin DL, Merimee TJ, Rabinowitz D, Cavalli-Sforza LL, McKusick VA (1969) Peripheral subresponsiveness to human growth hormone in the African pygmies. N Engl J Med 281:1383–1388
Rimoin DL, Holzman GB, Merimee TJ et al (1968) Lactation in the absence of human growth hormone. J Clin Endocrinol Metab 28:1183–1188
Rimoin DL, Merimee TJ, Rabinowitz D, McKusick VA (1968) Genetic aspects of clinical endocrinology. Recent Prog Horm Res 24:365–437
Siggers CD, Rimoin DL, Dorst JP et al (1974) The Kniest syndrome. Birth Defects Orig Artic Ser 10:193–208
Spranger JW, Koch F, McKusick VA, Natzschka J, Wiedemann HR, Zellweger H (1970) Mucopolysaccharidosis IV (Maroteaux-Lamy’s disease). Helv Paediatr Acta 25:337–362
Tyson JE, Barnes AC, McKusick VA, Scott CI, Jones GS (1970) Obstetric and gynecologic considerations of dwarfism. Am J Obstet Gynecol 108:688–704
Tyson JE, Barnes AC, Merimee TJ, McKusick VA (1970) Isolated growth hormone deficiency: studies in pregnancy. J Clin Endocrinol Metab 31:147–152
Walker BA, Murdoch JL, McKusick VA, Langer LO, Beals RK (1971) Hypochondroplasia. Am J Dis Child 122:95–104
Walker BA, Scott CI, Hall JG, Murdoch JL, McKusick VA (1972) Diastrophic dwarfism. Medicine 51:41–59
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2012 Springer Science+Business Media, LLC
About this chapter
Cite this chapter
Francomano, C.A., Rimoin, D.L. (2012). Dr. Victor A. McKusick and the Genetics of Dwarfism. In: Dronamraju, K., Francomano, C. (eds) Victor McKusick and the History of Medical Genetics. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1677-7_14
Download citation
DOI: https://doi.org/10.1007/978-1-4614-1677-7_14
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-1676-0
Online ISBN: 978-1-4614-1677-7
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)