Burck U
Hum Genet. 1983;64(3):291-6. doi: 10.1007/BF00279415.
The majority of patients with hemifacial microsomia (HM) including Goldenhar syndrome are sporadic cases. The sporadic nature of this disorder is emphasized by the discordant occurrence of HM in one of female monozygotic twins reported here. Previous publications, however, also suggest autosomal dominant and autosomal recessive modes of inheritance. Possible formes frustes will also have to be considered when giving genetic counsel.
包括Goldenhar综合征在内的大多数半侧颜面短小畸形(HM)患者为散发病例。本文报道的一对女性单卵双胞胎中一人患HM而另一人未患,这种不一致的情况突出了该疾病的散发性。然而,既往出版物也提示其存在常染色体显性和常染色体隐性遗传模式。在进行遗传咨询时还必须考虑可能的顿挫型。