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KEY POINTS
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Key Points

  • Defined as “true” and “relative.” In “true” macroglossia histologic abnormalities are present. In “relative” macroglossia, the tongue is normal but appears large due to jaw underdevelopment or oropharyngeal hypotonia.

  • Incidence is 1/11,000 to 1/25,000 livebirths.

  • Differential diagnosis includes overgrowth syndromes, trisomy 21, congenital hypothyroidism, inborn errors of metabolism, lymphatic and vascular malformations, and tumors.

  • A karyotype is indicated to rule out trisomy 21.

  • Prevent airway obstruction at birth.

  • Partial glossectomy in childhood is curative.

  • Recurrence risks depend on underlying etiology.

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CONDITION
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In children, macroglossia is defined as a resting tongue that protrudes beyond the teeth or the alveolar ridge (Weiss and White, 1990; Weissman et al., 1995). The antenatal diagnosis of macroglossia is somewhat subjective. In the neonate, the tongue grows faster than the other oral structures; it is not limited by the presence of teeth. At rest, some normal neonates may exhibit apparent enlargement of the tongue and protrusion through the lips. For the majority of these newborns, however, the tongue recedes into place with normal anatomic growth of the mouth (Myer et al., 1986). The first scientific report of macroglossia occurred in 1854, when Virchow and Uber described a lingual lymphatic malformation that arose from dilation of lymphatic spaces in the tongue (Vogel et al., 1986).

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Vogel et al. (1986) have defined two types of macroglossia: “true” and “relative.” True macroglossia means that histologic abnormalities of the tongue are present that correlate with the clinical findings of tongue enlargement. Examples of such findings include vascular malformations, muscular hypoplasia, tumor infiltrate, or the presence of abnormal elements within the tongue, including edema, inflammation, or storage material. In Beckwith–Wiedemann syndrome, the histology of the tongue is normal, and the macroglossia is due to hyperplasia of the muscle fibers. In lymphangioma, histologic analysis reveals numerous endothelial-lined cystic spaces that contain lymphatic fluid, erythrocytes, and lymphocytes in a thin stroma of connective tissue. The striated muscle in the tongue subsequently atrophies where compression has occurred from dilated lymphatics (Rice and Carson, 1985). Relative macroglossia means that there is apparent tongue enlargement, but no histologic changes within the tongue are demonstrated. An example of relative macroglossia is in trisomy 21, in which the tongue is normal but appears large due to mandibular or maxillary underdevelopment or generalized oropharyngeal hypotonia.

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INCIDENCE
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Macroglossia is a rare fetal finding (Weissman et al., 1995). To our knowledge, there are no published reports of the true incidence of macroglossia presenting in utero. An estimate of the incidence of macroglossia may be calculated indirectly from the incidences of three common conditions that are associated with macroglossia—Beckwith–Wiedemann syndrome, congenital hypothyroidism, and trisomy 21. The incidence of Beckwith–Wiedemann syndrome is 1 in 13,500 births (Patterson et al., 1988). Approximately 82% to 99% of infants with Beckwith–Wiedemann syndrome have macroglossia (...

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