Baraitser M, Reardon W
Department of Clinical Genetics, Hospital for Sick Children, London, United Kingdom.
Am J Med Genet. 1994 Nov 1;53(2):163-4. doi: 10.1002/ajmg.1320530208.
We present a further case, the fourth known to us, of the Carey-Fineman-Ziter syndrome. The emergence of a consistent and recognisable phenotype, characterised by hypotonia, weakness, ophthalmoplegia, and a Möbius-like clinical picture, is emphasised.
我们报告了Carey-Fineman-Ziter综合征的又一病例，这是我们所知的第四例。文中强调了一种一致且可识别的表型的出现，其特征为肌张力减退、肌无力、眼肌麻痹以及类似默比厄斯综合征的临床表现。
