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

Year: 1986

Type: article

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. We report a sibship in which a wide variation of expression is present and recessive inheritance can be postulated.

Source: Journal of Medical Genetics

DOI: 10.1136/jmg.23.5.459

Authors: P Strisciuglio, A Ballabio, G Parenti

Institutions: University of Campania "Luigi Vanvitelli", University of Naples Federico II

Language: English

Topic: Congenital Ear and Nasal Anomalies

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2019392125