Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports

Authors

  • Steven L. Singer BDS, FDSRCPS(Glasg), MSc(Lond), DOrth(Eng),

    Corresponding author
    1. Consultant Orthodontist, Chairman of Dental Department, Princess Margaret Hospital, Perth, Western Australia.
      Princess Margaret Hospital for Children, Thomas Street, Perth, Western Australia 6008.
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  • Eric Haan MB BS(Monash), FRACP, BMedSc(Monash),

    1. Director of Medical Genetics, Adelaide Children's Hospital, Adelaide, South Australia.
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  • Jennie Slee MB BS(U.WA), DCH(SA), DipRACOG(WA),

    1. Department of Paediatrics, Princess Margaret Hospital, Perth, Western Australia.
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  • Jack Goldblatt MB, ChB, MD(C'town), FCP(SA), FRACP

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    • §

      Director of Genetics Services, Princess Margaret Hospital, Perth, Western Australia.


Princess Margaret Hospital for Children, Thomas Street, Perth, Western Australia 6008.

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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