Nevin N C, Craig B G, Mullholland H C, Casey F
Belfast City Hospital Trust, and Department of Medical Genetics, The Queen's University of Belfast, Northern Ireland, UK.
Am J Med Genet. 1997 Dec 31;73(4):412-5.
A "new" syndrome was identified by McPherson and Clemens [1996: Am J Med Genet 62:58-60] in a brother and sister with bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, and complex heart defects. The brother also had a bilobed tongue and the sister had malrotation of the intestine and bifid thumbs. We describe three brothers with similar anomalies apart from the bilobed tongue, malrotation of the intestine, and bifid thumbs. McPherson and Clemens [1996: Am J Med Genet 62:58-60] suggested autosomal recessive inheritance. Our observation of three affected brothers also raises the possibility of X-linked recessive inheritance.
麦克弗森和克莱门斯[1996年：《美国医学遗传学杂志》62卷：58 - 60页]在一名患有双侧唇腭裂、眼距过宽、面部轮廓扁平、枕部扁平以及复杂心脏缺陷的兄妹身上发现了一种“新”综合征。哥哥还患有双叶舌，妹妹患有肠旋转不良和拇指裂。我们描述了三名患有类似异常情况的兄弟，但没有双叶舌、肠旋转不良和拇指裂。麦克弗森和克莱门斯[1996年：《美国医学遗传学杂志》62卷：58 - 60页]提出为常染色体隐性遗传。我们对三名患病兄弟的观察也增加了X连锁隐性遗传的可能性。
