CONGENITAL MACROGLOSSIA AND BECKWITH-WIEDEMANN SYNDROME - A REVIEW OF 31 CASES

The features of Beckwith-Wiedemann syndrome include macroglossia, omphalocele, neonatal hypoglycemia, gigantism, organomegaly, hemihypertrophy, and an increase in the risk of specific tumors. Incomplete forms have been reported. A study of 31 cases of congenital macroglossia suggests that Beckwith-Wiedemann syndrome is a relatively common entity of variable clinical expression, whose clinical and molecular features may be of value for predicting the risk of malignancy. Familiarity with all the manifestations of the syndrome, including the maxillofacial defects, is a prerequisite to the diagnosis of incomplete or minor forms. Macroglossia is the most common feature. Partial glossectomy or reduction glossoplasty should be considered very early to prevent maxillofacial deformities and to ensure optimal cosmetic and functional outcomes. Molecular abnormalities in the 11p15 area have been found in patients with Beckwith-Wiedemann syndrome or embryonic tumors. In this study, examination of DNA from leukocytes, tongue specimens, and tumor specimens demonstrated loss of maternal heterozygosity (paternal unidisomy), abnormal methylation of the IGF-II gene, and differential parental imprinting abnormalities. These findings can be expected to be of use for establishing the prenatal and postnatal diagnosis, predicting the outcome and providing genetic counseling. Emphasis is put on the need for multidisciplinary management by a team including a pediatrician, an endocrinologist, an oncologist, a molecular biologist, a pediatric surgeon, and a maxillofacial surgeon.