Cases reported "Hearing Loss, Conductive"

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1/19. Goldenhar's syndrome: congenital hearing deficit of conductive or sensorineural origin? temporal bone histopathologic study.

    BACKGROUND: Oculoauriculovertebral dysplasia (OAVD) (Goldenhar's syndrome) is a congenital syndrome with ipsilateral deformity of the ear and face, epibulbar lipodermoids, coloboma, and vertebral anomalies. Goldenhar's anomaly has often been associated with a degree of congenital hearing deficits, almost always of a conductive origin, but a sensorineural component is also suspected in some cases, evident through malformations of the inner ear. patients AND methods: Both temporal bones of a 10-day-old deceased patient with oculoauriculovertebral dysplasia were examined by light microscopy. RESULTS: The ear deformities included deformity of the auricle, atresia of the external auditory canal, and malformation of the tympanic cavity and ossicles. Abnormalities of the stria vascularis and the semicircular canals were also demonstrated. Further inner ear deformities were not identified in this case. CONCLUSION: These histopathologic findings appear to confirm the conductive component of the congenital hearing deficit, but a sensorineural component could not be omitted. The ear alterations favor early developmental field defects. The causes of this condition are controversial. Recent results in genetic research pertaining to the MSX class genes permit better understanding of the variety, variability, and different degrees of severity of the anomalies described here.
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2/19. Familial microtia in four generations with variable expressivity and incomplete penetrance in association with type I syndactyly.

    Familial microtia with external ear canal atresia and conductive deafness is rarely reported. Autosomal dominant and recessive inheritance have been suggested depending on various family reports. Cases with other malformations in addition to microtia have been described, although the microtia generally is an isolated finding. Here we report a family with microtia, external auditory canal atresia and conductive deafness in four generations. The mode of inheritance of the disease was autosomal dominant within this family. Also, variable expressivity, incomplete penetrance and generation skipping are evident in the pedigree. association of microtia with type I syndactyly, which has never been reported previously, was present in the index case.
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keywords = atresia
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3/19. Familial lateral semicircular canal malformation with external and middle ear abnormalities.

    We report a family with inner ear lateral semicircular canal (LSC) malformation and external and middle ear abnormalities. The family had no history of known syndromes or toxic exposures. Distinct phenotypic manifestations were found in three family members. A young girl exhibited bilateral LSC malformation with a right-sided preauricular tag, a mildly deformed auricle, a stenotic external auditory canal, and a constricted middle ear cavity. She had moderate conductive hearing loss in the right ear but normal hearing in the left ear. Her younger brother exhibited right-sided LSC malformation, microtia, external auditory canal atresia, a malformed middle ear cavity, and abnormal auditory ossicles. He had severe mixed hearing loss in his right ear. Their mother exhibited left-sided LSC malformation without external and middle ear abnormalities, and the hearing was normal in her left ear. None of the three cases had vestibular symptoms, and their results of balance tests were appropriate for the corresponding ages. In contrast, significantly decreased LSC function was revealed by caloric tests in an ear with LSC malformation. Previously, LSC malformation may have been underdiagnosed in patients presenting with external and middle ear abnormalities and their relatives, since this malformation is frequently associated with normal hearing and balance or conductive hearing loss only. To our knowledge, this condition has not been described previously. This condition supports a genetic basis for the combination of LSC malformation and external and middle ear abnormalities and may represent an autosomal dominant condition with variable expressivity.
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4/19. Round window atresia and its effect on sound transmission.

    OBJECTIVE: To document isolated round window atresia and to discuss its impact on current theories of inner ear function. patients AND STUDY DESIGN: Retrospective analysis of isolated round window atresia suggesting an autosomal dominant inheritance pattern and review of current concepts of cochlear macromechanics. SETTING: Tertiary referral center. RESULTS: The unexpected finding of isolated round window atresia in two female patients of the same family was confirmed intraoperatively as well as postoperatively using high-resolution computed tomography. The current audiograms and the review of the literature highlight a mixed, but predominantly conductive, hearing impairment with thresholds at 30 to 40 dB. Implying that there is no pressure release mechanism for inner ear fluid displaced by the stapes footplate, a total conductive hearing loss would be expected. CONCLUSIONS: The rare finding of round window atresia can be overlooked at surgery because of insufficient exposure of the round window niche. High-resolution computed tomography confirms the round window obliteration. It seems that an alternative way of cochlear stimulation takes place besides the concept of fluid bulk shifting. Surgery seems not to guarantee favorable results.
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ranking = 8
keywords = atresia
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5/19. Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case.

    In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. An isolated case was reported later (Johnston et al. [1987: Am J Med Genet 26: 925-927]) and thereafter an affected mother and son (Hennekam and Holtus [1993: Am J Med Genet 47: 714-716]). We describe an additional unrelated female patient with features resembling those of the previously reported cases. She presented with intrauterine growth deficiency, microcephaly, alopecia, bilateral microtia with canal atresia, conductive hearing loss, partial left facial palsy, posterior cleft palate, left choanal stenosis, tetralogy of fallot, developmental delay, and right thumb polydactyly. Because the phenotypic abnormalities in this syndrome affect the brain, facial structures, ectoderm and its derivatives, outflow tract of the heart, and Rathke's pouch derivatives, this has suggested to previous authors etiologic involvement of the ectoderm and neuroectoderm of the first and second branchial arches, Rathke's pouch, and the diencephalon. Microtia with conductive hearing loss differentiates the condition from other ectodermal dysplasias. In the initial report, females appeared somewhat less affected than males, and there was male-to-male transmission. The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset alopecia in the maternal grandfather's relatives.
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6/19. Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS).

    Osteopathia striata with cranial sclerosis (OSCS), conductive hearing impairment and a characteristic facial appearance is the clinical manifestation in carrier women of an X-linked disease. We report on a family with typical OSCS in the mother, a maternal aunt and the grandmother, and multiple severe malformations in the son. He was affected by cranial sclerosis with frontal bossing, conductive hearing impairment, cleft palate, thoracic dysplasia, mesenterium commune with non-rotation of the gut, anal atresia, bilateral cutaneous syndactyly of 3rd and 4th fingers, duplication of the distal phalanx of 2nd and 3rd fingers on the right, bilateral fibular aplasia with clubfeet, developmental retardation, epileptic seizures, hypothyroidism, and hypertrophic pyloric stenosis. The X-inactivation pattern in peripheral leucocytes of one informative carrier woman was random. Our case and several literature reports confirm that males which are hemizygous for the OSCS trait suffer from a dysmorphic syndrome with characteristic multiple malformations as a distinct entity. There is, at present, no reason to assume genetic heterogeneity with an autosomal dominant OSCS variant.
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ranking = 1
keywords = atresia
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7/19. Application of modified transmastoid approach methods to congenital atresia of the external ear canal with middle ear infection.

    OBJECTIVE: To present our surgical technique for congenital atresia of the external ear canal with middle ear infection. methods: A modified transmastoid approach to congenital atresia of the external ear canal with middle ear infection was applied. Our method is to visualize the landmarks of the mastoid cavity such as the antrum, sinodural angle and digastric ridge by the canal-open method to avoid facial nerve injury and then prepare a relatively large external ear canal with reconstruction of the posterior wall of the external ear canal. RESULTS AND CONCLUSION: This method is suitable not only for treating congenital atresia of the external ear canal with middle ear infection, but also for avoiding facial nerve injury and postoperative complications such as re-stenosis of the new ear canal and postoperative middle ear infection.
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ranking = 7
keywords = atresia
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8/19. The BAHA Softband. A new treatment for young children with bilateral congenital aural atresia.

    OBJECTIVE: To evaluate the validity of a bone-anchored hearing aid (BAHA) Softband (fitted unilaterally and bilaterally) in young children with bilateral congenital aural atresia. SUBJECTS: Two children with severe bilateral congenital conductive hearing loss, who had been fitted with a transcutaneous BAHA Softband at the age of 3 and 28 months, respectively. The latter child had been fitted with a conventional bone-conduction hearing aid at the age of 3 months; at 28 months, this child had received the BAHA Softband and after 5 months of unilateral application, the BAHA Softband was fitted bilaterally. Follow-up in the two children was 31 and 17 months, respectively. methods: Using the artificial mastoid, gain and maximum output were studied in this new transcutaneous application of the BAHA, with the BAHA Classic and the BAHA Compact as sound processor. Results were compared to those obtained with a conventional bone-conduction device (Oticon E 300 P). Aided thresholds and sound lateralization scores were assessed with double visual reinforcement audiometry (VRA). To test the validity of the BAHA Softband, the speech and language development of the children was assessed by means of age-appropriate tests (the preverbal Symbolic play test and the Dutch non-speech test for receptive and expressive language and the Dutch version of the Reynell language test). RESULTS: The electro-acoustic measurements showed minor differences in gain between the three devices. At a reduced volume setting, the mean input level at which the output levelled off was largely comparable between the BAHA Classic and the conventional device, but somewhat poorer with the BAHA Compact. Both children showed speech and language development that was in accordance with their cognitive development. CONCLUSIONS: The BAHA Softband was a valid intervention in children with congenital bilateral aural atresia who were too young for percutaneous BAHA application.
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ranking = 6
keywords = atresia
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9/19. Further phenotypic and genetic variation in adult syndrome.

    adult (Acro-dermato-ungual-lacrimal-tooth) syndrome is characterized by ectrodactyly, syndactyly, fingernail and toenail dysplasia, hypoplasia of the breast and nipple, excessive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and/or early loss of permanent teeth. It is a rare autosomal dominant disorder which has been linked to mutation in the p63 gene. The p63 gene has been described in five overlapping limb malformation syndromes including the EEC syndrome (ectodermal ectrodactyly clefting). We report on the first case of adult syndrome of a mother and daughter with a new mutation R227Q in exon 6 of the p63 gene. This has not been previously associated with adult syndrome but only seen in EEC. In addition to the previously reported features of adult syndrome this report also describes some additional findings including hyperextensibility at the distal interphalageal joints, bilateral thumb duplication, bifid toenails, symptoms of urinary retention, vesicoureteric reflux, prominent ears, conductive hearing loss, and an overgrowth of a patch of hair in the midline of the neck. This report expands the knowledge of genotype-phenotype data on the p63 gene and suggests there may be a considerable overlap between the EEC syndrome and the adult syndrome.
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keywords = atresia
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10/19. Right-sided microtia and conductive hearing loss with variable expressivity in three generations.

    Familial cases of microtia and meatal atresia are rare, and both dominant and recessive inheritance have been suggested. We here report a family with right-sided external ear malformations and conductive hearing loss in a grandfather, his daughter and granddaughter. The grandfather and the granddaughter both had microtia and meatal atresia, whereas the daughter had a normal outer ear except for a narrow meatus and auricular appendages. The pedigree suggests autosomal dominant inheritance with variable expressivity.
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