Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs

Dysmorphology is the branch of clinical genetics in which clinicians and researchers study and attempt to interpret the patterns of human growth and structural defects. Reaching an accurate diagnosis for children with dysmorphic signs is important to their families, because it makes available all the accumulated knowledge about the relevant condition and may provide the family with the opportunity for interaction with patient or parent support groups. I show in this review that reaching a diagnosis in dysmorphology involves an approach that is not fundamentally different from that of other medical disciplines. Cytogenetic and molecular techniques continue to improve our ability to make precise syndrome diagnoses; however, these tests are expensive and should be used selectively.