Macroglossia
Macroglossia, a big tongue, is a rare condition mostly related to specific syndromes. The most common syndrome associated with macroglossia is Beckwith-Wiedemann syndrome, and it is sometimes associated with trisomy 21. Macroglossia can be best visualized on the facial profile view. The coronal view is also helpful. A nomogram for tongue measurement has been established.
Fig 1
The major causes of macroglossia are as follows:
- Beckwith-Wiedemann syndrome
- Athyrotic hypothyroidism
- Trisomy 21, 22
- Autosomal dominant macroglossia
- Harlequin fetus (congenital ichthyosis)
- Mass of the tongue; lingual thyroid, lingual hemangioma, lymphangioma
- Epignathus.
Fig 1: Macroglossia Facial profile view: persistent protruding tongue (arrow) (in fetal Down syndrome)
Video clips of facial clefts
Macroglossia: Midsagittal facial profile shows persistent protrusion of the enlarged tongue