Genetic causes of macroglossia: diagnostic approach.

OBJECTIVE: Evaluate the contribution of standard diagnostic tests for macroglossia when clinical features are not suggestive of Beckwith-Wiedemann syndrome (BWS).

METHODS: A retrospective analysis of data from clinical, laboratory, and imaging information from children with macroglossia seen at Cincinnati Children's Hospital Medical Center between 1997 and 2010 was performed.

RESULTS: One hundred thirty-five children with macroglossia were identified. Macroglossia was the main reason for consultation in 84 children. Patients were classified on initial examination as isolated macroglossia (n = 24), provisional BWS (n = 36), and syndromic (n = 24). A final diagnosis was reached in 74 patients, and in 10 patients the reason for macroglossia remained undetermined. Among the elucidated cases, BWS was the most common cause of macroglossia (39/84). Six of the 24 patients in the isolated macroglossia group had an abnormal molecular test for BWS (P = .006). Thirteen diagnostic conditions were confirmed in this study, and 42% of the population had a specific diagnosis that was not BWS (35/84).

CONCLUSIONS: These results can be used to improve our strategy in the evaluation of macroglossia. Distinction between isolated macroglossia and BWS may be difficult when only taking into account clinical features. These findings suggest that all patients with apparently isolated macroglossia have at least initial evaluation with abdominal ultrasounds and molecular studies for BWS before a final diagnosis is given. BWS was the most common cause of macroglossia even in the absence of additional clinical findings.