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BIBLIOGRAPHIC INPUT SHEET TEMPORARY Patterns of mortality ...

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Chapter X<br />

Congenital Anomalies<br />

Knowledge <strong>of</strong> the geographic distribution<br />

and <strong>of</strong> the frequency <strong>of</strong> congenital anonalies<br />

is an important. first step in the search<br />

for causes <strong>of</strong> these serious and <strong>of</strong>ten fatal<br />

abnormialities found at birth. Causes <strong>of</strong> a<br />

few <strong>of</strong> theim have been discovered-such as<br />

rubella in the mother (Gregg, 1941 which<br />

leads to congenital heart disease, cataract,<br />

microcephaly, and (leafness in the child, and<br />

the drug thalidomide taken in early pregnancy<br />

which has caused severe inalfornations<br />

<strong>of</strong> the extremities (Taussig, 1962, and<br />

Leek and Miller, 1962). Genetic factors,<br />

chromosomal abnormalities, and a number<br />

<strong>of</strong> environmental intrauterline fictors such<br />

as infection are amlong the groups <strong>of</strong> causes<br />

to be suspected on discovery <strong>of</strong> a congenital<br />

anomaly (Warkany and Kalter, 1961).<br />

Npi-pplla¢,:e the lclatioiiqhili lrtwoon tin<br />

anomaly and a specific cause is nearly always<br />

impossil)le to establish, a fact that<br />

makes llrevention rarely f,iIiLC,<br />

Although it I,.,, Ibeen recommended that<br />

the term "anomaly" embrace congenital abnormal<br />

molecular structure, that is, inborn<br />

errors <strong>of</strong> metabolism (Warkany and Kalter,<br />

as used in this<br />

1961), congenital anomaly<br />

Investigation refers to macroscopic structural<br />

abnormality, as manifested by a devi-<br />

ation from normal development at birth.<br />

This definition used in the Investigation enbraces<br />

all the conditions appearing in the<br />

section on congenital anomalies in tile InternationalClassification<strong>of</strong><br />

Diseases and perinits<br />

the inclusion <strong>of</strong> a few other abnormalities<br />

appearing in other sections.<br />

One <strong>of</strong> the important considerations that<br />

led to the undertaking <strong>of</strong> this Investigation<br />

was the need for clarification <strong>of</strong> the situation<br />

in the Americas in regard to frequency<br />

<strong>of</strong> congenital anomalies. The Pan American<br />

Health Organization (1963) held a planning<br />

conference in 1963 designed to stimulate interest<br />

in research in this important field <strong>of</strong><br />

health. Fortunately this Investigation has<br />

provided the geographic distributions <strong>of</strong><br />

serious anomalies resulting in deaths <strong>of</strong><br />

children under 5 years <strong>of</strong> age as well as <strong>of</strong><br />

minor anomalies diagnosed in deceased children.<br />

Ill 1959, the World Health O,,ganim,lion<br />

Iei! 1),. D.r, Alctn C. tevenson to organize<br />

and conduct a prospective study <strong>of</strong> congenital<br />

mnalformnations* in accordance with<br />

recommendations made by a meeting <strong>of</strong><br />

186<br />

specialists held in April 1959. Facilities<br />

and staff <strong>of</strong> the Population Genetics Research<br />

Unit <strong>of</strong> tile Medical Research Coun­<br />

-eat i Britain were availble for the<br />

cil <strong>of</strong> G<br />

collection and analysis <strong>of</strong> the data that were<br />

to be assembled. In that research program<br />

uniform information was recorded for con-<br />

* In the 111065 Revision <strong>of</strong> the International Classification<br />

<strong>of</strong> Diseases the term anomaly was introduced, replacing<br />

malformation.

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