Genetic aspects of hemifacial microsomia.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D004200:Diseases in Twins; D005146:Facial Asymmetry / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006053:Goldenhar Syndrome / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D014430:Twins, Monozygotic