Autosomal dominant microtia.
Microtia (MIM600674) is a congenital malformation which occurs in 1/8000-10000 births. It is characterized by a small, and abnormally shaped pinna. It ranges in severity from a bump of tissue to a partially formed ear cup. Microtia is often associated with atresia of the external auditory canal. Familial microtia with meatal atresia has been reported, either with dominant or recessive inheritance, which makes genetic counselling difficult in sporadic cases. In the present paper, we report the case of a family with congenital microtia and conductive deafness in two generations, suggesting autosomal dominant inheritance with variable expression and incomplete penetrance.
Chafai Elalaoui
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S
Department of Medical Genetics, National Institute of Health, 27, Avenue Ibn Batouta, B.P. 769 Rabat, Morocco. sihamgen@yahoo.fr
Cherkaoui Jaouad
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I
Rifai
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Sefiani
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A
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D054644:Ear Auricle / Q000002:abnormalities*; D005799:Genes, Dominant; D005817:Genetic Counseling; D014644:Genetic Variation; D006314:Hearing Loss, Conductive / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D019683:Penetrance