The Dysmorphic Infant

A genetics evaluation should be considered for a patient in the setting of multiple anatomic anomalies, known maternal exposure to a teratogen, a history of familial disorders, increased carrier frequency or ethnic risk, or multiple pregnancy losses. The essential parts of a genetic evaluation include the medical history, family history, dysmorphology examination, literature review, and diagnostic testing. The advancement of techniques utilized in genetic testing, such as chromosomal microarrays and next generation sequencing, has greatly improved the ability to make a genetic diagnosis. The best clues to establish a differential diagnosis are generally the rarest. In cases in which there is no clear diagnosis, prognosis and treatment should be determined according to the organ systems involved and the extent of their impairment.