Dominant Hereditary Conductive Deafness Through Lack of Incus-Stapes Junction

Escher, F; Hirt, Hans Peter

doi:10.3109/00016486809120938

Cited by 20 publications

(5 citation statements)

References 15 publications

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“…In this family, the defect appeared to be an inherited trait due to either an autosomal dominant mutation or an X-linked dominant inheritance. In dominant hereditary conductive deafness through lack of incus Á stapes junction, it must be assumed that a dominant genetic factor prevents the rotation and junction of the distal end of the incus with the blastema of the stapes in the sixth to the seventh fetal week, resulting in inborn conductive deafness [12]. Another interesting finding in our study was that the absence of the long process of the incus was associated with several stapedial anomalies.…”

Section: Discussionsupporting

confidence: 55%

Conductive deafness with normal eardrum: absence of the long process of the incus

Park

Choung

Shin

et al. 2007

Acta Oto-Laryngologica

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Conclusions. The most likely cause of lesions with an absence of the long process of the incus was congenital origin because many cases were associated with the stapedial anomaly. However, the possibility of a potential inflammation of this lesion could not be completely excluded, especially in cases with only an absence of the long process of the incus. Objective. To clarify whether the absence of the long process of the incus is caused by congenital anomaly or a potential inflammation. Subjects and methods. A total of 21 patients (5 bilateral cases, 16 unilateral cases) with absence of the long process of the incus were reviewed. Operative and histopathological findings of the removed incus were analyzed. Results. The 21 cases with absence of the long process of the incus were classified into 6 types. Thirteen cases showed the absence of the long process associated with the stapedial anomaly, which were all unilateral. Eight cases showed no association with the stapedial anomaly, among which five cases were bilateral. Three of eight cases not associated with the stapedial anomaly showed evidence of resorption in the incus body such as fibrosis and Haversian canal widening.

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Section: Discussionsupporting

confidence: 55%

Conductive deafness with normal eardrum: absence of the long process of the incus

Park

Choung

Shin

et al. 2007

Acta Oto-Laryngologica

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“…The ossicles may be displaced and malformed [4, 151 ; the stapes and incus may be fused [32] , unconnected [20,29] , or normal [ 101 . Families showing dominant inheritance of hearing loss associated with malformed unconnected stapes and incus, and no pits or branchial clefts, have also been reported [7,36], with deformity of the pinna in one of them [36]. These probably do not represent the present syndrome.…”

Section: Discussionmentioning

confidence: 95%

Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss, and renal anomalies

et al. 1978

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A pedigree of branchio-oto-renal dysplasia (the BOR syndrome) is reported, including the documentation by serial audiometric studies of the onset and rapid progression of hearing loss in the twin sister of an affected child. The literature on this syndrome is analyzed to derive some figures for use in genetic counseling of such families. Branchio-oto-renal dysplasia is an autosomal dominant disorder in which affected individuals may have preauricular pits, lachrymal duct stenosis, hearing loss, branchial fistulas or cysts, structural defects of the outer, middle, and inner ear, and renal anomalies, which may range from mild hypoplasia to complete absence. Not all features of the syndrome are expressed in all carriers of the gene, but few carriers lack all the features, and the pits, branchial clefts, and hearing loss, are frequently expressed. Those offspring of affected persons who have pits or fistulas are likely (about 80%) to have hearing loss of varying degrees of severity. A minority of heterozygotes (about 7%) may have hearing loss without pits or fistulas. The risk of severe renal malformation is probably fairly low. Whether families that show dominant inheritance of pits, clefts, and deafness without renal anomalies represent variants of the BOR syndrome or a separate entity (the BO syndrome), is still not clear. At present, any individual with preauricular pits and branchial clefts deserves both otologic and renal investigation.

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“…Failure of either of these unions might be expected to occur occasionally. Escher and Hirt (1968) and Wilmot (1970) describe congenital conductive deafness in families in Switzerland and Ireland due to disconnection or failed union of the incudostapedial joint. Some abnormality of fusion of the developing stapes at the otic capsule may later have resulted in this lady's ossicular discontinuity.…”

Section: Discussionmentioning

confidence: 99%

Unusual case of bilateral conductive deafness

Hoare¹,

Aldren²,

Morgan³

et al. 1990

J. Laryngol. Otol.

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A 30-year-old female presented with a ten-year history of bilateral conductive deafness. A pre-operative diagnosis of otosclerosis was made but at tympanotomy, the stapes crura in each ear was found to be disconnected from the foot- plate, the ossicular chain being otherwise normal. A Teflon-wire prosthesis was used to join incus and footplate, with good results. In the absence of a history of trauma or sepsis this may be a late presentation of a congenital stapedial anomaly which has not previously been reported.

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Dominant Hereditary Conductive Deafness Through Lack of Incus-Stapes Junction

Cited by 20 publications

References 15 publications

Conductive deafness with normal eardrum: absence of the long process of the incus

Conductive deafness with normal eardrum: absence of the long process of the incus

Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss, and renal anomalies

Unusual case of bilateral conductive deafness

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