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1/31. 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. ( info)

2/31. 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. ( info)

3/31. EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family.

    Advances in molecular genetics have recently revealed that mutations in the EYA1 gene are responsible for branchio-oto-renal (BOR) syndrome in European and other populations. This is the first report confirming that an EYA1 gene mutation is also disease-causing in an Asian population. We have described one Japanese BOR syndrome family showing a novel mutation in exon 7 of the EYA1 gene. There was extensive variation of clinical phenotypes within this family. When the physician is confronted with a BOR family showing a wide variation in clinical expression, molecular genetic testing helps to achieve accurate diagnosis. ( info)

4/31. Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.

    We describe a 14-month-old girl with unilateral congenital cholesteatoma and anomalies of the facial nerve in addition to the more common branchial arch, otic, and renal malformations comprising the branchio-oto-renal (BOR) syndrome. Her mother also has the BOR syndrome and unilateral duplication of the facial nerve. This is the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve are described in patients with the BO/BOR syndrome. We review the congenital cholesteatoma literature and discuss hypotheses for the pathogenesis of this entity in light of this new report. ( info)

5/31. New' manifestations of BOR syndrome.

    Defined in 1975, branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder consisting of branchial arch anomalies, hearing loss, and urinary tract malformations. It is the prototype of the non-chromosomal syndromes that have branchial arch anomalies as major clinical manifestations: BOR, branchio-otic (BO), branchio-otic-facial (BOF), and Townes-Brock syndromes. Subsequently, several clinical manifestations have expanded its phenotype. Retrospective analysis of 31020 families evaluated between January 2, 1982 and December 31, 1996 at the genetic clinics of the University of South florida, showed seven probands with BOR/?BOR syndrome. Four of the probands and affected relatives had manifestations that further expanded the phenotype: gustatory lacrimation, hypospadias, imperforate anus, osteosclerosis, microcephaly, hypodontia, congenital vocal cord paresis, and congenital incomplete fixation of the transverse colon. Thus, BOR/ ?BOR syndrome appears to be a clinically and genetically heterogeneous multiorgan/system entity that manifests itself predominantly during organogenesis. Clinicians and researchers alike should be cognizant of the expanded phenotype and heterogeneity, while in the dna laboratories the latter will be sorted out. ( info)

6/31. Bilateral congenital cholesteatoma in branchio-oto-renal syndrome.

    branchio-oto-renal syndrome is a rare autosomal dominant condition characterized by hearing loss, branchial arch abnormalities and renal tract malformations. We present the first reported case of branchio-oto-renal syndrome associated with bilateral congenital cholesteatoma and ossicular chain abnormalities. The pathogenesis of this syndrome is described and the literature is reviewed. ( info)

7/31. 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. ( info)

8/31. Complete breast absence revisited.

    Congenital absence of the breast is a rare condition. The literature shows that there is much heterogeneity in its presentation as well as its inheritance. We described a mother and daughter with the condition and how the mother underwent breast reconstruction with use of bilateral transverse rectus abdominis myocutaneous flaps. ( info)

9/31. 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. ( info)

10/31. 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. ( info)
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