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Macroglossia

Summary   Ultrasound Features   Differential Diagnoses   Syndromes   Images 1   Show All

Macroglossia denotes enlargement of the tongue. Enlargement may be absolute, or relative to reduction in size of the oral cavity. It is often found in association with micrognathia and with several well described syndromes.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. Title: Fetal facial defects: associated malformations and chromosomal abnormalities Author: Nicolaides KH, Salvesen DR, Snijders RJM, Gosden CM Journal: Fetal Diagn Ther 8:1-9 Year: 1993 Title: In: Human Malformations and Related Anomalies Author: Gorlin RG, Sedano HO Journal: Stevenson RE, Hall JG, Goodman RM, eds. Oxford University Press: Oxford, p398-9 Year: 1993 Title: Congenital hypothyroidism detected by neonatal screening: relationship between biochemical severity and early clinical features Author: Grant DB, Smith I, Fuggle PW, Tokar S, Chapple J Journal: Arch Dis Child 67:87-90 Year: 1992 Title: Prenatal ultrasound diagnosis of macroglossia in the Wiedemann-Beckwith syndrome Author: Cobellis G, Iannoto P, Stabile M, Lonardo F, Della Bruna M, Caliendo E, Ventruto V Journal: Prenat Diagn 8:79-81 Year: 1988 Title: Autosomal dominant macroglossia in two unrelated families Author: Reynoso MC, Hernandez A, Soto F, Garcia-Cruz O, Martinez y Martinez R, Cantu JM Journal: Hum Genet 74:200-2 Year: 1986 Title: Macroglossia: a review of the condition and a new classification Author: Vogel JE, Mulliken JB, Kaban LB Journal: Plast Reconstr Surg 78:715-723 Year: 1986 Title: A case report of lingual lymphangioma presenting as recurrent massive tongue enlargement Author: Rice JP, Carson SH Journal: Clin Pediatr 24:47-50 Year: 1985 Title: Oral and dental development in X chromosome aneuploidy Author: Farge P, Dallaire L, Albert G, Melancon SB Journal: Clin Genet 27:122-126 Year: 1985 Title: A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma. Author: Lapunzina P; Badia I; Galoppo C; De Matteo E; Silberman P; Tello A; Grichener J; Hughes-Benzie R Journal: J Med Genet Feb;35(2):153-6 Year: 1998 Title: Development of the fetal tongue between 14 and 26 weeks of gestation: in utero ultrasonographic measurements. Author: Achiron R; Ben Arie A; Gabbay U; Mashiach S; Rotstein Z; Lipitz S Journal: Ultrasound Obstet Gynecol Jan;9(1):39-41 Year: 1997

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