Letter from Philip L. Townes to Victor A. McKusick
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1971-03-02 (March 2, 1971)
Townes, Philip L.
University of Rochester. School of Medicine
McKusick, Victor A.
Original Repository: Alan Mason Chesney Medical Archives. Victor Almon McKusick Collection
Reproduced with permission of Philip L. Townes.
The Bar Harbor Course and "McKusick's Catalog," 1960-1980
Letter from Victor A. McKusick to Philip L. Townes (January 8, 1971)
Letter from Philip L. Townes to Victor A. McKusick (January 25, 1971)
March 2, 1971
In keeping with your memo requesting further suggestions for topics for the Fourth Annual Conference in the Clinical Delineation
of Birth Defects, I would wonder
whether you would be interested in a report of a rather unique family in which imperforate anus and bony anomalies of the
hands and feet are dominantly inherited. In your provisional program I note that imperforate anus is being discussed and our
family might well be of interest in that regard.
In essence, we have a family showing what may be called a Hand-Foot-Anus Syndrome. The father and four of his six children
are all affected. Two of the affected children were prospectively ascertained in that they were born after we initially counseled
the family in 1967.
We have not submitted a manuscript to any journal as yet, although Mr. Brocks and I did submit an abstract last year for the
Society for Pediatric Research meeting. The abstract appeared, but by title only as it was not selected for the program.
I believe our family represents the first in which autosomal dominant inheritance of imperforate anus has been demonstrated
in terms of an affected parent with affected children of both sexes. Moreover, the syndrome is quite different from that of
Say and Gerald and is one which has not yet been reported.
As you know I am presently scheduled to present our findings on Trypsinogen Deficiency Disease and it remains my first choice
of course. If the rules permit a second paper, then I would request your consideration of Hand-Foot-Anus Syndrome by Philip
L. Townes and Eric Brocks.