Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports.
Hemifacial microsomia is a rare dentofacial anomaly which is regarded as a separate entity to Goldenhar syndrome and primarily affects the structures of the first branchial arch. It has a heterogeneous aetiology and tends to occur sporadically, though positive family histories have been reported. This paper reports on individuals in two generations of a family that has overlapping features of hemifacial microsomia and Goldenhar syndrome segregating as an autosomal dominant condition.
Singer
S L
SL
Dental Department, Princess Margaret Hospital, Perth, Western Australia.
Haan
E
E
Slee
J
J
Goldblatt
J
J
D000293:Adolescent; D000328:Adult; D001934:Branchial Region / Q000002:abnormalities / Q000473:pathology; D002648:Child; D004431:Ear, External / Q000002:abnormalities; D005146:Facial Asymmetry / Q000235:genetics* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006053:Goldenhar Syndrome / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D008311:Malocclusion, Angle Class I / Q000473:pathology; D008312:Malocclusion, Angle Class II / Q000473:pathology; D008335:Mandibular Condyle / Q000002:abnormalities / Q000473:pathology; D010375:Pedigree