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 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.
Orstavik
K H
KH
Department of Medical Genetics, Ullevål Hospital, Oslo, Norway.
Medbø
S
S
Mair
I W
IW
D000328:Adult; D004424:Ear Canal / Q000002:abnormalities; D004431:Ear, External / Q000002:abnormalities*; D004432:Ear, Middle / Q000002:abnormalities; D005260:Female; D015870:Gene Expression / Q000502:physiology*; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010641:Phenotype