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1/10. branchio-oto-renal syndrome with generalized microdontia: case report.

    branchio-oto-renal syndrome, first defined in 1976, is an autosomal dominant disorder characterized by anomalies of the external, middle, and inner ear in association with preauricular sinuses, branchial cleft anomalies, and varying degrees of renal dysplasia, including aplasia. Less frequently expressed phenotypic abnormalities include lacrimal duct aplasia and stigmata of renal dysgenesis known as Potter facies. Although the precise incidence of the disorder is unknown, it may be more common than is generally appreciated, and it appears to be distinct from other autosomal dominant otobranchial syndromes. Moreover, not all features of the syndrome are expressed in all carriers of the gene. An unusual case of branchio-oto-renal syndrome with generalized microdontia of the permanent dentition is reported.
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2/10. Branchio-oculo-facial syndrome: case report.

    Branchio-oculo-facial (BOF) syndrome is a rare dominant autosomal disorder. Less than 50 cases have been reported up to now. We present a Chinese boy with BOF syndrome who has characteristic features of bilateral postauricular cervical branchial cysts, bilateral complete cleft of primary palate, bilateral lacrimal duct obstruction and bilateral low set ears with posterior rotation. His intelligence and growth were normal at the age of 7 years. This is the first case reported in taiwan. The overlap between BOR syndrome and BOF syndrome include external ear abnormalities with hearing loss, lacrimal duct obstruction, branchial cleft remnants, and renal or ureteral defects. The relationship between these two syndromes is still unclear. Contiguous gene deletion phenomenon, different mutations in the same gene, or distinct entities all have been proposed. The literature was reviewed and discussed, especially the reports about the gene EYA1 (eyes absent-like 1), which is responsible for branchio-oto-renal syndrome. If we can detect mutations of EYA1 gene in BOF patients, this could be the key for solving the above debate.
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3/10. A family with autosomal dominant inherited dysmorphic small auricles, lip pits, and congenital conductive hearing impairment.

    DESIGN: We examined 3 generations in a family for congenital conductive hearing impairment, dysmorphic small auricles, and lip pits. SETTING: Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, the netherlands. RESULTS: Seven members of the family had bilateral dysmorphic auricles. Three subjects had either a pit or dimple in the lip. Two subjects had congenital conductive hearing impairment. CONCLUSION: Using gene linkage, we confirmed that these autosomal dominant inherited branchial anomalies present a new separate branchial arch syndrome.
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4/10. Branchio-oculo-facial syndrome.

    Branchio-oculo-facial (BOF) syndrome is a rare autosomal dominant disorder that has a distinct phenotype with characteristic craniofacial abnormalities. These consist of branchial anomalies, including supra-auricular sinuses, and aplastic cervical skin lesions, with possible ectopic dermal thymus, malformed auricles, stenotic external auditory canals, conductive hearing loss, ocular abnormalities (microphthalmia and lacrimal duct obstruction), and pseudocleft of the upper lip. Extracraniofacial malformations are uncommon. We describe two new cases of BOF and discuss the classical clinical presentation and differential diagnosis. Our two patients presented with facial nerve paralysis and were also were found to have inner ear dysplasias with associated sensorineural hearing loss which, to our knowledge, have not been described in the literature in association with this syndrome.
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5/10. Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial syndrome.

    Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial Syndrome: We describe a 3-year-old girl with bilateral severe conductive hearing loss and multiple bilateral supra- and preauricular defects with unusual overlying thin skin. The severe conductive hearing loss is due to abnormal configuration of the ossicular chain. Multiple pre- and supra-auricular skin defects have been described in the Branchio-Oculo-Facial syndrome, and we propose that the findings in our present patient may be a variant manifestation of this syndrome.
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6/10. Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome.

    OBJECTIVE: To study the results of petrosal bone imaging and audiometric long-term follow-up of two patients with branchio-oto-renal (BOR) syndrome and relate them to the clinical features, including caloric responses. STUDY DESIGN: Longitudinal case study. SETTING: Tertiary referral center. patients: A father and son with the BOR syndrome. MAIN OUTCOME MEASURES: Both patients underwent imaging studies to detect and evaluate inner ear anomalies. Longitudinal audiometric analysis of the hearing threshold data over the previous 23 years was performed. caloric tests were performed at various ages. RESULTS: The son had a short, wide internal acoustic canal, a hypoplastic cochlea, a plump vestibule, and a wide vestibular aqueduct on both sides; the semicircular canals and endolymphatic sac were of normal size. He showed progressive fluctuant sensorineural hearing loss. caloric tests disclosed hyporeflexia on the left side. The father had a plump internal acoustic canal and hypoplastic cochlea on both sides. The left vestibule was hypoplastic, and the left vestibular aqueduct was marginally enlarged. He showed severe hearing impairment, without substantial progression or fluctuation, and caloric areflexia on the left side. CONCLUSION: These findings suggest a correlation between progressive fluctuant sensorineural hearing loss with caloric hypofunction and the presence of an enlarged vestibular aqueduct in the BOR syndrome. Additional longitudinal case studies are needed to further evaluate such a correlation.
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keywords = aqueduct, duct
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7/10. A family affected by branchio-oto syndrome with EYA1 mutations.

    Branchio-oto (BO) syndrome is complicated with congenital preauricular fistulae, branchial fistulae (cysts), and hearing loss (sensorineural, conductive or mixed). As well as branchio-oto-renal (BOR) syndrome. it is known to be an autosomal dominant hereditary disorder. Since mutations in the EYA1 gene have been identified in both BO and BOR syndromes, mutation screening of this gene has been drawing attention as a genetic test to diagnose BOR/BO syndromes. In this study, we genetically investigated the presence of EYA1 mutations in a BO syndrome family in which we observed congenital preauricular fistulae, branchial fistulae (cysts) and hearing loss in four generations. Whereas there was a variety of phenotype expressions in this family, all subjects tested had a nonsense mutation (R264X) in exon 8 of the EYA1 gene. The present report adds further examples to support the usefulness of molecular genetic testing for the diagnosis of patients with BO syndrome.
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8/10. Branchio-oculo-facial syndrome with the atresia of external ear.

    We report an 8-year-old child with branchio-oculo-facial syndrome. He showed atresia of external ear, preauricular pit, maxillar and mandibular hypoplasia, mild ptosis on the left side, lacrimal duct obstruction, unilateral branchial cyst, hypertrichosis of the neck, left foot showed mild syndactily of fourth and fifth toes and dental abnormalities. His mother had pseudocleft of the lip which led to the diagnosis. The importance of serial observations in patients with rare genetic disorders is emphasized.
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9/10. SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome.

    OBJECTIVES:: The objectives of this study were to identify SIX1 gene mutations in a patient with branchio-oto syndrome (BO) and to clarify the relationship between SIX1 mutation and enlargement of the vestibular aqueduct (EVA). methods:: A genetic study and retrospective chart review for a patient in whom EYA1 mutation had already been excluded was conducted. We studied a Japanese patient who had autosomal-dominant mixed hearing loss, a unilateral ear pit and unilateral EVA, and who was previously diagnosed as having BO. We searched for SIX1 and SLC26A4 mutations using polymerase chain reaction and direct gene sequencing. RESULTS:: The patient carried a heterozygous A-->G mutation at nucleotide 386 within exon 1 of SIX1 that resulted in substitution of a cysteine for a tyrosine at codon 129 (Y129C) of the gene product. Y129C is a previously identified SIX1 mutation and was not detected in any of our 164 control chromosomes. No SLC26A4 mutations were identified. CONCLUSION:: Y129C mutation in SIX1 may cause EVA as well as BO.
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keywords = aqueduct, duct
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10/10. Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome?

    A young male infant was noted at birth to have bilateral cleft lip and palate, bilateral microphthalmos and ocular colobomata, and a dysplastic left kidney. His mother had similar ophthalmological findings and milder facial anomalies which included abnormality of the philtrum and bilateral congenital nasolacrimal duct obstruction. His maternal grandmother had mild facial anomalies including a short philtrum and bilateral congenital nasolacrimal duct obstruction but had no evidence of any ocular abnormalities. The spectrum of abnormalities seen in this family are similar to those described in the branchio-oculo-facial syndrome, a rare dominantly inherited syndrome in which there are a number of developmental abnormalities of the eye, face, and kidney. Although the precise cause of this syndrome is unknown, it is likely to be caused by mutations in a gene responsible for the ordered closure of the foetal fissure and fusion of facial structures.
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