Hearing loss in Pfeiffer's syndrome.

Abstract:

:A 14-year-old boy with conduction hearing loss, acrocephaly, minimum syndactyly, broad thumbs and big toes is classified as being affected with a form of acrocephalosyndactyly, termed Pfeiffer's syndrome (McK+10160) [12]. It is the first case of this syndrome presented in the otorhinolaryngological literature. During exploratory tympanotomy, the ossicular chain was found to be fixed. The incus seemed to be fixed in the epitympanum and there was ankylosis of the stapes. After antrotomy during a first stage, stapedectomy and teflon interposition during a second stage the air-bone gap disappeared. Multidirectional polytomography of the inner ear, performed preoperatively, was normal with the exception of a markedly local bilateral dilatation of the internal acoustic meatus. Although this case is a sporadic one, the mode of inheritance of this syndrome is autosomal dominant.

authors

Cremers CW

doi

10.1016/0165-5876(81)90059-8

subject

Has Abstract

pub_date

1981-12-01 00:00:00

pages

343-53

issue

4

eissn

0165-5876

issn

1872-8464

pii

0165-5876(81)90059-8

journal_volume

3

pub_type

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