Macroglossia

Anne Kennedy, MD

DIFFERENTIAL DIAGNOSIS

Common

Idiopathic
Trisomy 21

Less Common

Beckwith-Wiedemann Syndrome
Oral Mass (Mimic)

ESSENTIAL INFORMATION

Key Differential Diagnosis Issues

Normal fetal movements include swallowing, thumb sucking and tongue motion
Macroglossia implies that the tongue is too large to fit in oral cavity
Down syndrome fetuses may exhibit “tongue thrusting” movements in third trimester
- Tongue protrudes intermittently due to lax muscle tone
If tongue seems “too easy to see” look carefully for facial cleft
- Coronal view of nose/lips
- Axial view of tooth buds
Lymphangioma may cause tongue enlargement
- Rare amongst head and neck lymphangiomas
- More likely to present in childhood than in fetus
Oral masses can be confusing
- Sometimes hard to tell if a mass originates in tongue or palate
- Epignathus typically very large with cystic/solid/calcified components

Helpful Clues for Common Diagnoses

Idiopathic
- Structurally normal fetus
  - No signs of aneuploidy particularly trisomy 21
  - Size appropriate for dates
Trisomy 21
- Correlate with a priori risk and look for sonographic markers
  - Absent nasal bone/thick nuchal fold/mild ventriculomegaly
  - Congenital heart disease, particularly atrioventricular septal defect
  - Duodenal atresia/echogenic bowel/pyelectasis
  - Short humerus/femur
  - Clinodactyly/sandal gap toe

Helpful Clues for Less Common Diagnoses

Beckwith-Wiedemann Syndrome
- Macroglossia in 97%
- Fetal overgrowth in 88%
- Omphalocele/umbilical hernia in 80%
- Organomegaly
- At increased risk for severe neonatal hypoglycemia sufficient to cause brain injury
- Childhood tumors develop in up to 10% of cases (Wilms tumor most common)

Image Gallery

Sagittal transabdominal ultrasound during the course of a growth assessment for poor maternal weight gain showed this fetus “licking” the placenta. The tongue