Objectives: Compare dysmorphology exam by a clinical geneticist to proposed research evaluation of dysmorphology (Pictures and Measurements Approach-PMA).
Methods: Forty children (ages 2-5 years) with ASD were seen by a geneticist, who documented dysmorphic features observed during the exam. Each child was also seen by a non-geneticist clinician who administered the PMA (anthropometric measurements, description of specified features, and photographs of the face, head, hands, feet, and unusual physical features observed by examiner). A second geneticist reviewed the PMA data only and determined the number of dysmorphic features. The geneticists were alternately assigned to perform the clinical exam or review the PMA data.
Results: The intraclass correlation coefficient for the total number of dysmorphic features identified was .52 (CI: .09 - 0.74), suggesting moderate agreement across methods. Analysis of examiner effects suggested variability across geneticists viewing the pictures: Examiner A: ICC =0.32 (ns); Examiner B: ICC = 0.65 (ns). Agreement across methods was best for the mouth and ears and worst for the nose. In 16 of 40 subjects (40%), the geneticist found 1 or more features that would not be picked up by the PMA. These features included the chest (accessory nipple, pectus excavatum), teeth and palate (high narrow palate, small or wide spaced teeth), genitalia (shawl scrotum, hypospadias), and joints (laxity).
Conclusions: Although time-saving, assessing dysmorphic features via photographs results in missing some physical features. In epidemiology studies, the potential for PMA to miss important features is a concern that needs to be addressed, potentially through medical record review.