Congenital malformations - Edocr

14 PART I GENERAL CONSIDERATIONS
could suggest the possibility of a chromosome
abnormality in the family and to any history of
consanguinity which would suggest the possibility
of an autosomal recessive disorder. Minor
dysmorphic features or unusual characteristics
can at times represent benign familial characteristics
so examination of the parents for such
features, or simply asking the parents about
these findings, can be helpful in sorting out their
significance. Some caution should be used in
assuming the fact that a dysmorphic infant resembles
a parent is always reassuring, since
many dysmorphic syndromes are dominantly
inherited and a parent may be unaware that he
or she is affected. A classic example of this is
Noonan syndrome. An undiagnosed parent may
be short with a broad neck and low set ears but
no significant medical problems, yet can give
birth to a child with much more serious concerns
such as hypertrophic cardiomyopathy.
PHYSICAL EXAMINATION
In an infant who is noted to have a congenital
malformation, either major or minor, a detailed
physical examination is critical to determine if
there are additional anomalies. The significance
of multiple malformations is clearly different
from that of a single isolated malformation. The
examination should begin with careful measurements
of length, weight, and head circumference
since findings of intrauterine growth retardation
(IUGR), microcephaly, or macrocephaly
could be of great significance. Efforts should be
made to systematically assess facial features and
all other organ systems. If dysmorphic features
are noted, they should be described as precisely
as possible. In circumstances in which structures
appear abnormally large or small, graphs
or charts representing a compilation of normative
data are often available against which individual
measurements can be compared 1,2 so obtaining
measurements may be desirable.
Special mention should be made of the significance
of minor anomalies, usually defined as
dysmorphic features or unusual findings of minimal
or no functional or cosmetic significance. Examples
of minor anomalies are seen in Figs. 2-1
to 2-5. A single minor anomaly is found in approximately
14% of all newborns and is not associated
with an increased risk of associated major
Figure 2-1.
Inner epicanthal folds, in this case in a patient with Down syndrome.