Microtia hearing impairment and cleft palate
Definition:
Microtia is a congenital anomaly of the ear characterized by a small abnormally shaped outer ear. It is often associated with hearing loss. Syndromic form of microtia occurs in conjunction with other abnormalities. The most common associated malformation is the cleft palate. It has been reported that a mutation in the HOXA2 homeobox gene causes microtia, severe hearing impairment, and partial cleft palate.
References:
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[1]. Daniela V Luquetti, et al. Microtia: epidemiology and genetics. Am J Med Genet A. 2012 Jan;158A(1):124-39. [Content Brief]
[2]. Fatemeh Alasti, et al. A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. Am J Hum Genet. 2008 Apr;82(4):982-91. [Content Brief]
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