Table 3.

SORT: KEY RECOMMENDATIONS FOR PRACTICE

Clinical recommendation	Evidence rating	References	Comments
A full dysmorphology examination is best conducted by a trained clinical geneticist; a primary care physician should conduct a thorough physical examination.	C	9–12	—
In the assessment of developmental delay and/or neurocognitive impairment, neuroimaging is warranted when a structural, degenerative, or metabolic process is suspected.	C	19, 20	Discussion with a radiologist or neurologist may assist with the choice of imaging modality.
A three-generation family history should be obtained when a genetic syndrome is suspected or identified. Genetic counselors can be invaluable in this regard.	C	26, 28	A combination of open-ended and specific questions is useful to ascertain the presence of relatively common conditions (such as those that involve cancer or neurocognitive disturbances); it also allows for identification of medical issues that “run in the family.”

A = consistent, good-quality patient-oriented evidence; B = inconsistent or limited-quality patient-oriented evidence; C = consensus, disease-oriented evidence, usual practice, expert opinion, or case series. For information about the SORT evidence rating system, go to http://www.aafp.org/afpsort.xml.