Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports |
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| Authors: | Steven L. Singer BDS,FDSRCPS,MSc,DOrth,Eric Haan MB BS,FRACP,BMedSc,&dagger ,Jennie Slee MB BS,DCH,DipRACOG,&Dagger Jack Goldblatt MB,ChB,MD,FCP,FRACP,§ |
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| Affiliation: | Consultant Orthodontist, Chairman of Dental Department, Princess Margaret Hospital, Perth, Western Australia.;Director of Medical Genetics, Adelaide Children's Hospital, Adelaide, South Australia.;Department of Paediatrics, Princess Margaret Hospital, Perth, Western Australia. |
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| Abstract: | 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 micro-somia and Goldenhar syndrome segregating as an autosomal dominant condition. |
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| Keywords: | Hemifacial microsomia microtia mandibular asymmetry autosomal dominant |
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