Branchio‐oto‐renal syndrome: Comprehensive review based on nationwide surveillance in <scp>J</scp>apan

Morisada, Naoya; Nozu, Kandai; Iijima, Kazumoto

doi:10.1111/ped.12357

Cited by 51 publications

(115 citation statements)

References 39 publications

(49 reference statements)

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“…However, urethral anomalies have not been previously reported in association with BOR/BO syndrome, except for one instance of urethral stenosis in a Japanese patient. 2 In this context, hypospadias is a new clinical entity that is being described in the present child with clinically established BOR spectrum disorder who had no other clinically detectable anomaly in the rest of the renal/excretory system. Presence of hypospadias here might be argued to be coincidental.…”

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confidence: 85%

“…The BOR syndrome is an autosomal dominant disorder with relatively high penetration and can occasionally be sporadic; it results most commonly from mutation of the EYA1 gene (8q13.3). 1,2 The phenotypic expressions of BOR syndrome is highly variable and heterogeneous. Nevertheless, there are characteristic clinical hallmarks forming its major diagnostic criteria, such as hearing impairment (conductive, sensorineural, mixed), deformities of the pinna (including microtia), second pharyngeal arch anomalies, preauricular sinus, and renal anomalies.…”

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confidence: 99%

“…3 The BOR syndrome sans renal anomalies constitutes the BO syndrome; being allelic disorders, they share similar genetic and morphologic characteristics and are referred together as BOR spectrum disorders. 1,2 Renal anomalies associated with BOR/BO syndrome occur in 30% to 80% of patients and constitute renal hypoplasia/aplasia, multicystic dysplasia, malrotation, steatosis, membranous nephropathy, nephroptosis, and glomerulonephritis. 1,2,4 Involvement of the collecting system, like occasional calyceal cyst/diverticulum, calyectasis, pelviectasis, vesico-ureteric reflux, hydroureter, double ureter, and hydronephrosis secondary to uretero-pelvic junction obstruction, 1,2,4 is relatively less common.…”

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confidence: 99%

“…1,2 Renal anomalies associated with BOR/BO syndrome occur in 30% to 80% of patients and constitute renal hypoplasia/aplasia, multicystic dysplasia, malrotation, steatosis, membranous nephropathy, nephroptosis, and glomerulonephritis. 1,2,4 Involvement of the collecting system, like occasional calyceal cyst/diverticulum, calyectasis, pelviectasis, vesico-ureteric reflux, hydroureter, double ureter, and hydronephrosis secondary to uretero-pelvic junction obstruction, 1,2,4 is relatively less common. However, urethral anomalies have not been previously reported in association with BOR/BO syndrome, except for one instance of urethral stenosis in a Japanese patient.…”

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confidence: 99%

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Hypospadias as a New Entity to Define the Branchio-Oto-Renal Spectrum Disorders

Dutta

Chatterjee

2019

Ear Nose Throat J

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confidence: 85%

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confidence: 99%

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confidence: 99%

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confidence: 99%

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Hypospadias as a New Entity to Define the Branchio-Oto-Renal Spectrum Disorders

Dutta

Chatterjee

2019

Ear Nose Throat J

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“…Expression of these findings is variable, however, resulting in the potential for a delayed or missed diagnosis, which can adversely impact the language and social development of these children. 2,[5][6][7] In addi-tion, though frequently silent at presentation, renal anomalies are a substantial cause of morbidity during the life span of these individuals. 8 An early and definitive diagnosis prompting a search for associated anomalies would therefore be of great value in the management of these patients.…”

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confidence: 99%

The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome

Hsu

Desai

Paldino

2018

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE:Branchio-oto-renal syndrome is an important syndromic cause of hearing loss. Our aim was to determine the test characteristics of the unwound cochlea on temporal bone CT for the diagnosis of branchio-oto-renal syndrome in a cohort of children with hearing loss. MATERIALS AND METHODS:Patients were identified retrospectively with a clinical diagnosis of branchio-oto-renal syndrome and CT imaging of the temporal bones. Age-matched controls were also identified with sensorineural hearing loss not related to a diagnosis of branchio-oto-renal syndrome and CT imaging of the temporal bones. All examinations were reviewed by 2 neuroradiologists blinded to the diagnosis of branchio-oto-renal syndrome versus controls for the absence/presence of an unwound cochlea defined as anteromedial rotation and displacement of the middle and apical turns away from the basal turn. RESULTS:The final study group comprised 9 patients with branchio-oto-renal syndrome (age range, 1-14 years; mean age, 8.0 Ϯ 4.3 years) and 50 control patients (age range, 1-16 years; mean age, 7.9 Ϯ 4.1 years). The cochlea was subjectively abnormal in all 9 patients. In 8 patients (89%), imaging demonstrated a typical unwound cochlear morphology. By contrast, none of the control subjects demonstrated an unwound cochlea on either side. Statistically, the unwound cochlea was significantly more frequent in the branchio-oto-renal group compared with controls (P Ͻ .001). The unwound cochlea was 89% sensitive and 100% specific for the diagnosis of branchio-oto-renal syndrome. CONCLUSIONS:The unwound cochlea is a specific imaging marker of branchio-oto-renal syndrome. These findings further support the diagnostic accuracy and therefore the utility of temporal bone imaging in the diagnosis of this disorder. ABBREVIATION: BOR ϭ branchio-oto-renal syndrome

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Development of Neurogenic Placodes in Vertebrates

Buzzi

Hintze

Streit

2019

Encyclopedia of Life Sciences

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The cranial sensory nervous system comprises a diverse set of organs: the eye, ear and nose and the sensory ganglia that transmit touch, pain, temperature and gustatory information to the brain. Despite the structural and functional diversity of the adult organs, during development, they arise from a common pool of sensory progenitor cells. These progenitors are specified early during embryonic development in the nonneural ectoderm next to the future brain. Subsequently, they diversify to form sensory placodes, special patches of thickened epithelium adjacent to the developing neural tube. Each placode acquires its unique identity under the influence of signals from surrounding tissues and later generates specialised cell types that characterise each organ. Key Concepts Evolution of elaborate sensory systems in the head allowed vertebrate evolution. Sensory placodes are transient structures that form in the head ectoderm outside of the central nervous system and contribute to the sense organs and cranial sensory ganglia. All sensory placodes arise from a pool of multipotent progenitors that have initially the potential to give rise to all placode derivatives, but their potential becomes restricted as the embryo develops. Placode progenitors develop in close association with central nervous system precursors and neural crest cells in a territory termed the ‘neural plate border’. Placode progenitors are induced gradually in the ectoderm surrounding the anterior neural plate by signals from the underlying mesoderm. These signals differ along the rostro‐caudal axis with FGFs, BMP and Wnt antagonists inducing posterior progenitors, while anterior progenitors also require Shh and neuropeptides. Localised sources of different signals induce olfactory, trigeminal, otic and epibranchial placodes from sensory progenitor cells. Signals induce the expression of transcription factors in broad ectodermal domains, and mutual repression between them sharpen boundaries between neural, neural crest and placodal and between precursors for different placodes.

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Branchio‐oto‐renal syndrome: Comprehensive review based on nationwide surveillance in Japan

Abstract: Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchiogenic malformation, hearing loss and renal anomalies.

Cited by 51 publications

References 39 publications

Hypospadias as a New Entity to Define the Branchio-Oto-Renal Spectrum Disorders

Hypospadias as a New Entity to Define the Branchio-Oto-Renal Spectrum Disorders

The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome

Development of Neurogenic Placodes in Vertebrates

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