Original Repository: Alan Mason Chesney Medical Archives. Victor Almon McKusick Collection
Reproduced with permission of Anne B. McKusick.
Medical Subject Headings (MeSH):
From "Musical Murmurs" to Medical Genetics, 1945-1960
U.S. Marine Hosp. Balto.
Dear Dr. Jeghers,
There is an article "The Clinical Detection of the Genetic Carriers of Inherited Disease" by James V. Neal, Medicine,
26: 115-153, 1947, which brings to mind another method of inheritance of the syndrome than "gene-linkage", or the
presence of a separate gene for each characteristic on the same chromosome. Neal speaks of pleiotropic genes, or a single
gene being responsible for many manifestations. As an example he sites[sic] the case of Marfan's disease, or arachnodactyly,
in which a single dominant pleiotropic gene is responsible for the subluxation of the lens, the characteristic elongated body
build, congenital heart disease, etc. There is, however, in the same family great variability in the completeness or degree
of expression of the individual characteristics due to factors not at all understood. This analogy might serve to make less
puzzling the possibility that some individuals have only the polyposis of the small intestine and other individuals only the
characteristic pigmentation -- although, of course, it doesn't explain it.
Genetically the Syndrome is analogous to amaurotic[?] family idiocy or hereditary optic atrophy in which the patient is not
born with the characteristics but only develops them as he ages.
James Harold Saint, "Polypi of the Intestines", Brit. J. of Surgery 15: 99-119, 1927, gives a ratio of 4:1 as the
approximate incidence of polyposis in the large intestine as compared with that in the small int.
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I have found the following reports of familial adenomatosis of the small intestine. The reports are too skimpy to permit construction
of any sort of genealogical chart.
(1) William G. Haggard and William O. Floyd, "Repeated Resections for Intussusception Due to Familial Tumors of the Small
Intestine," Am. J. Surg. 28: 428-438, 1935.
The father had 4 operations, 3 for intussusception and 1 for malignant degeneration. A daughter had 2 operations for intussusception
due to adenomatous polypi. A son had 3 operations for the same reason.
(2) Van Dijk, J.A. and Ovdendal, A.J.F., "Adenoom van den Dunnen Darm," Nederl. Tijdsch. V. Genecsk. Ams., 1925, LXIX,
A brother and sister both had several operations within a relatively short time for intussusception due to many adenomata
of the upper ileum.