CONGENITAL MACROGLOSSIA AND BECKWITH-WIED EMANN SYNDROME - A REVIEW OF 31 CASES

The features of Beckwith-Wiedemann syndrome include macroglossia, omph alocele, neonatal hypoglycemia, gigantism, organomegaly, hemihypertrop hy, and an increase in the risk of specific tumors. Incomplete forms h ave been reported. A study of 31 cases of congenital macroglossia sugg ests that Beckwith-Wiedemann syndrome is a relatively common entity of variable clinical expression, whose clinical and molecular features m ay be of value for predicting the risk of malignancy. Familiarity with all the manifestations of the syndrome, including the maxillofacial d efects, is a prerequisite to the diagnosis of incomplete or minor form s. Macroglossia is the most common feature. Partial glossectomy or red uction glossoplasty should be considered very early to prevent maxillo facial deformities and to ensure optimal cosmetic and functional outco mes. Molecular abnormalities in the 11p15 area have been found in pati ents with Beckwith-Wiedemann syndrome or embryonic tumors. In this stu dy, examination of DNA from leukocytes, tongue specimens, and tumor sp ecimens demonstrated loss of maternal heterozygosity (paternal unidiso my), abnormal methylation of the IGF-II gene, and differential parenta l imprinting abnormalities. These findings can be expected to be of us e for establishing the prenatal and postnatal diagnosis, predicting th e outcome and providing genetic counseling. Emphasis is put on the nee d for multidisciplinary management by a team including a pediatrician, an endocrinologist, an oncologist, a molecular biologist, a pediatric surgeon, and a maxillofacial surgeon.