Ben-Galim E, Gross-Kieselstein E, Abrahamov A
Am J Dis Child. 1977 Jul;131(7):801-3. doi: 10.1001/archpedi.1977.02120200083019.
The Beckwith-Wiedemann syndrome--exomphalos, macroglossia and gigantism--occurred in a mother and her son. The clinical and metabolic features of this syndrome are described. We believe this is the first report of this syndrome affecting a mother and her son. An autosomal dominant pattern of inheritance is suggested.
贝克威思-维德曼综合征(脐膨出、巨舌症和巨人症)发生在一位母亲及其儿子身上。本文描述了该综合征的临床和代谢特征。我们认为这是关于该综合征影响一位母亲及其儿子的首例报告。提示为常染色体显性遗传模式。