Chafai Elalaoui S, Cherkaoui Jaouad I, Rifai L, Sefiani A
Department of Medical Genetics, National Institute of Health, 27, Avenue Ibn Batouta, B.P. 769 Rabat, Morocco.
Eur J Med Genet. 2010 Mar-Apr;53(2):100-3. doi: 10.1016/j.ejmg.2010.02.002. Epub 2010 Feb 10.
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.
小耳畸形（MIM600674）是一种先天性畸形，在8000至10000例出生中出现1例。其特征是耳廓小且形状异常。严重程度从组织隆起至部分形成的耳杯不等。小耳畸形常伴有外耳道闭锁。已报道有家族性小耳畸形伴耳道闭锁，呈显性或隐性遗传，这使得散发病例的遗传咨询变得困难。在本文中，我们报告了一个家族两代人患有先天性小耳畸形和传导性耳聋的病例，提示为常染色体显性遗传，具有可变表达和不完全外显率。
