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Rather than memorize the essential findings for all or even most
of the multiple congenital anomaly syndromes, it is far more useful
for the clinician to develop a strategy for syndrome recognition
that is both logical and practical, yet flexible enough to generalize among
genetic conditions. Important to this strategy is the availability
of information about genetic disorders that is accurate, succinct,
and complete. Many texts and online databases provide this information.
Moreover, these online resources are becoming increasingly available to
families of children with genetic conditions. Consequently parents
are frequently very knowledgeable about the diagnosis of a rare condition
even before their primary care practitioner has had a chance to
discuss it with them. Nevertheless, many of the concepts that are
required for total comprehension of the implications of a condition
are difficult to grasp. Consequently, the pediatric practitioner must
be able to explain the principles of human genetics to different
families with varied conditions.
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It is beyond the scope of this chapter to provide a comprehensive
description of the hundreds of relatively common genetic conditions or
the thousands of rare genetic disorders. Thus, Table
176-1 is designed to summarize the main features and inheritance
and gene locus/product (if known) of some of the better-known
multiple congenital anomaly/dysplasia syndromes not elsewhere
covered in this section. The reader is referred to the various genetic
texts and online resources that discuss the conditions in more detail.
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