释义 |
DictionarySeesyndromeEncyclopediaSeeBeckwith-Wiedemann syndromeEMG syndrome
Beck·with-Wie·de·mann syn·drome (bek'with vē'dĕ-mahn), [MIM*130650] an overgrowth syndrome characterized by exomphalos, macroglossia, and gigantism, often with neonatal hypoglycemia; there is an association with hemihypertrophy Wilms tumors and adrenocortical cancer. Autosomal dominant inheritance, with most cases sporadic; influenced by genomic imprinting and uniparental disomy; caused by change in the P57 (KIP2) gene locus on chromosome 11p. Synonym(s): EMG syndrome, exomphalos, macroglossia, and gigantism syndromeBeckwith, John Bruce, U.S. pediatric pathologist, 1933–. Beckwith syndrome - Synonym(s): Beckwith-Wiedemann syndromeBeckwith-Wiedemann syndrome - exomphalos, macroglossia, and gigantism, often with neonatal hypoglycemia; autosomal recessive inheritance. Synonym(s): Beckwith syndrome; EMG syndrome |