Microtia with meatal atresia and conductive deafness: Mild and severe manifestations within the same sibship

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Abstract

Hereditary malformations of the external ear, such as microtia and meatal atresia, not associated with other congenital defects or syndromes, are rarely reported. Only a few familial cases have been described in which both dominant and recessive inheritance has been suggested. The authors report a sibship in which a wide variation of expression is present and recessive inheritance can be postulated.

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Strisciuglio, P., Ballabio, A., & Parenti, G. (1986). Microtia with meatal atresia and conductive deafness: Mild and severe manifestations within the same sibship. Journal of Medical Genetics, 23(5), 459–460. https://doi.org/10.1136/jmg.23.5.459

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