title: Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy.
abstract: Aural atresia is a rare congenital malformation of the external and middle ear. There are several syndromic associations of this anomaly with those involving the first and second branchial arches. Occurrence of aural atresia with sclerosing skeletal dysplasia is unknown and has never been reported. The co-existence of a sclerosing dysplasia can make the surgical treatment in aural atresia difficult and risky; and the auditory improvement may not be as expected. Moreover, internal auditory canal narrowing and hence sensorineural hearing loss in sclerosing dysplasia might add to the already existing conductive hearing loss in such patients. In this case report we have described an unknown association of bilateral microtia with sclerosing skeletal dysplasia (autosomal dominant osteopetrosis) and clinical implications of these two conditions occurring together leading to a change in the management plan.
authors.affiliation: Ritu Verma, Manisha Jana, Ashu Seith Bhalla, Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi 110029, India.
authors.forename: Ritu
authors.initials: R
authors.lastname: Verma
authors.affiliation: Ritu Verma, Manisha Jana, Ashu Seith Bhalla, Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi 110029, India.
authors.forename: Manisha
authors.initials: M
authors.lastname: Jana
authors.affiliation: Ritu Verma, Manisha Jana, Ashu Seith Bhalla, Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi 110029, India.
authors.forename: Ashu Seith
authors.initials: AS
authors.lastname: Bhalla
authors.affiliation: Ritu Verma, Manisha Jana, Ashu Seith Bhalla, Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi 110029, India.
authors.forename: Arvind
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Ritu Verma, Manisha Jana, Ashu Seith Bhalla, Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi 110029, India.
authors.forename: Rakesh
authors.initials: R
authors.lastname: Kumar
keywords: Aural atresia; Congenital hearing loss; Microtia; Osteopetrosis