De Moor M M, Baruch R, Human D G
J Med Genet. 1987 Feb;24(2):107-9. doi: 10.1136/jmg.24.2.107.
Three children with frontonasal dysplasia associated with tetralogy of Fallot are reported. All cases had true hypertelorism and a median nasal groove with absence of the nasal tip. There was no mental deficiency. The facial anomaly is a sporadic, non-genetic interference of the normal development of the face. This is the first report of frontonasal dysplasia associated with a cardiac defect. Multifactorial inheritance of this syndrome is proposed.
报告了3例患有额鼻发育异常并伴有法洛四联症的儿童。所有病例均有真性眶距增宽和鼻正中沟，鼻尖缺如。无智力缺陷。面部异常是面部正常发育的散发性、非遗传性干扰。这是额鼻发育异常与心脏缺陷相关的首次报告。提出了该综合征的多因素遗传方式。
