Key Points
Facial dysmorphism can be caused by malformations or deformations.
Evaluation should include
A detailed pregnancy and family history.
A detailed physical examination.
Laboratory studies based on suspected etiology, history, and physical examination. A genetic consultation may be requested to select proper studies to be ordered.
The most important task initially is to determine whether features are
Consistent with the individual’s genetic background
An abnormal phenotype
Health care professionals should be sensitive about the terminology used to describe the patient and should describe the abnormal features as clearly and concisely as possible.
Once an abnormal phenotype is suspected, a decision has to be made whether the patient or family will benefit from a referral.
