Right-sided microtia and conductive hearing loss with variable expressivity in three generations

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 granddaug...

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Bibliographic Details
Published inClinical genetics Vol. 38; no. 2; p. 117
Main Authors Orstavik, K H, Medbø, S, Mair, I W
Format Journal Article
LanguageEnglish
Published Denmark 01.08.1990
Subjects
Adult
Ear Canal - abnormalities
Ear, External - abnormalities
Ear, Middle - abnormalities
Female
Gene Expression - physiology
Hearing Loss, Conductive - genetics
Humans
Infant
Male
Middle Aged
Phenotype
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.1990.tb03558.x