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Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports
Author(s) -
Singer Steven L.,
Haan Eric,
Slee Jennie,
Goldblatt Jack
Publication year - 1994
Publication title -
australian dental journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 71
eISSN - 1834-7819
pISSN - 0045-0421
DOI - 10.1111/j.1834-7819.1994.tb05564.x
Subject(s) - hemifacial microsomia , goldenhar syndrome , medicine , etiology , inheritance (genetic algorithm) , autosomal recessive inheritance , dysostosis , orthodontics , dermatology , anatomy , biology , genetics , craniofacial , congenital disease , surgery , pathology , gene , psychiatry
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.