macroglossia

diagnosis

diagnosis of macroglossia is generally made when the enlarged tongue is seen protruding through a persistently open mouth. this is best appreciated on sagittal views, but may be viewed in the coronal plane of the face above or below the mouth. diagnosis of macroglossia is based on subjective impression, but recently normative data for tongue circumference between 14 and 26 weeks gestation has been produced allowing micro- and macroglossia to be defined, both of which may be associated with abnormal fetal karyotype. a linear relationship between lingual width and gestational age in early pregnancy has also been described. macroglossia is often a marker of down syndrome, and a search should be made for other ultrasonographic findings, such as nuchal thickening, cystic hygroma, small ears, short femurs and cardiac defects. a second common syndromic association, beckwith-wiedemann syndrome, may be accompanied by polyhydramnios, macrosomia, omphalocele, enlarged kidneys, adrenal cysts, hyperechoic pancreas and placental enlargement. macroglossia may occur secondary to various pathological processes, including hemangioma, lymphangioma, hamartoma, choristoma, cyst, dermoid cyst, rhabdomyoma and systemic storage diseases such as mucopolysaccharidoses i, ii and iv, mannosidosis, mucolipidosis (i-cell disease), and glycogen storage (pompe) disease. relative macroglossia may be a sign of micrognathia, suggested by a prominent upper lip and small chin.