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Right‐sided microtia and conductive hearing loss with variable expressivity in three generations
Author(s) -
Ørstavik Karen Helene,
Medbø Sverre,
Mair Iain W. S.
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03558.x
Subject(s) - microtia , conductive hearing loss , atresia , daughter , hearing loss , autosomal recessive inheritance , inheritance (genetic algorithm) , expressivity , medicine , anatomy , audiology , biology , genetics , evolutionary biology , gene
Familial cases of microtia and meatal atresia are rare, and both dominant and recessive inheritance have been suggested. We here report a family with right‐sided external ear malformations and conductive hearing loss in a grandfather, his daughter and granddaughter. The grandfather and the granddaughter both had microtia and meatal atresia, whereas the daughter had a normal outer ear except for a narrow meatus and auricular appendages. The pedigree suggests autosomal dominant inheritance with variable expressivity.