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Malformations et maladies congénitales, héréditaires et néonatales
Maladies génétiques congénitales
Maladies chromosomiques
Syndrome branchio-oto-rénal
Syndrome branchio-oto-rénal : Questions médicales fréquentes
Diagnostic
5
Syndrome branchio-oto-rénal
Diagnostic médical
Tests génétiques
Syndrome branchio-oto-rénal
Échographie
Anomalies congénitales
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Syndrome branchio-oto-rénal
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Syndrome branchio-oto-rénal
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5
Symptômes
Syndrome branchio-oto-rénal
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Syndrome branchio-oto-rénal
Anomalies cutanées
Syndrome branchio-oto-rénal
Infections urinaires
Syndrome branchio-oto-rénal
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Syndrome branchio-oto-rénal
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5
Prévention
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Conseil génétique
Syndrome branchio-oto-rénal
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Syndrome branchio-oto-rénal
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Syndrome branchio-oto-rénal
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5
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Chirurgie
Appareils auditifs
Syndrome branchio-oto-rénal
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Syndrome branchio-oto-rénal
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5
Complications
Syndrome branchio-oto-rénal
Infections rénales
Syndrome branchio-oto-rénal
Maladies auditives
Syndrome branchio-oto-rénal
Chirurgie
Malformations congénitales
Suivi médical
Syndrome branchio-oto-rénal
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5
Facteurs de risque
Syndrome branchio-oto-rénal
Sexe
Syndrome branchio-oto-rénal
Facteurs environnementaux
Syndrome branchio-oto-rénal
Grossesses multiples
Syndrome branchio-oto-rénal
Hérédité
Mutations génétiques
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"name": "Quels signes cliniques indiquent ce syndrome ?",
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"name": "Quels sont les symptômes principaux du syndrome ?",
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"name": "Les symptômes varient-ils d'une personne à l'autre ?",
"position": 10,
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"@type": "Question",
"name": "Peut-on prévenir le syndrome branchio-oto-rénal ?",
"position": 11,
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{
"@type": "Question",
"name": "Le conseil génétique est-il utile ?",
"position": 12,
"acceptedAnswer": {
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}
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{
"@type": "Question",
"name": "Les tests prénataux sont-ils disponibles ?",
"position": 13,
"acceptedAnswer": {
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"text": "Des tests prénataux peuvent être proposés pour détecter des anomalies génétiques."
}
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{
"@type": "Question",
"name": "Les parents porteurs peuvent-ils avoir des enfants sains ?",
"position": 14,
"acceptedAnswer": {
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"text": "Oui, les parents porteurs peuvent avoir des enfants sans le syndrome."
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"name": "Y a-t-il des recommandations pour les familles ?",
"position": 15,
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}
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{
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"name": "Quel est le traitement principal pour ce syndrome ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement est symptomatique et peut inclure des interventions chirurgicales."
}
},
{
"@type": "Question",
"name": "Les appareils auditifs sont-ils recommandés ?",
"position": 17,
"acceptedAnswer": {
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"text": "Oui, les appareils auditifs peuvent aider à gérer la perte auditive."
}
},
{
"@type": "Question",
"name": "Comment gère-t-on les problèmes rénaux ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les problèmes rénaux peuvent nécessiter une surveillance régulière et parfois une dialyse."
}
},
{
"@type": "Question",
"name": "Des traitements préventifs existent-ils ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de traitement préventif, mais un suivi régulier est essentiel."
}
},
{
"@type": "Question",
"name": "La transplantation rénale est-elle une option ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la transplantation peut être envisagée en cas d'insuffisance rénale sévère."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des infections rénales, des problèmes auditifs et des malformations."
}
},
{
"@type": "Question",
"name": "Les infections rénales sont-elles graves ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles peuvent entraîner des dommages rénaux permanents si non traitées."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de maladies auditives ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients ont un risque accru de développer des maladies auditives chroniques."
}
},
{
"@type": "Question",
"name": "Les malformations peuvent-elles nécessiter une chirurgie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines malformations peuvent nécessiter des interventions chirurgicales."
}
},
{
"@type": "Question",
"name": "Le suivi médical est-il crucial ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un suivi médical régulier est essentiel pour prévenir et gérer les complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque connus ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de syndrome et certaines mutations génétiques sont des facteurs de risque."
}
},
{
"@type": "Question",
"name": "Le sexe influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, le syndrome affecte les individus indépendamment de leur sexe."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'y a pas de preuves solides liant des facteurs environnementaux au syndrome."
}
},
{
"@type": "Question",
"name": "Les grossesses multiples augmentent-elles le risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les grossesses multiples ne sont pas associées à un risque accru de ce syndrome."
}
},
{
"@type": "Question",
"name": "Les mutations génétiques sont-elles héréditaires ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les mutations peuvent être transmises de manière autosomique dominante."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 10/01/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Affiliations :
Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, People's Republic of China.
Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Publications dans "Syndrome branchio-oto-rénal" :
3 publications dans cette catégorie
Affiliations :
Department of Anatomy & Cell Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC 20037, USA.
Publications dans "Syndrome branchio-oto-rénal" :
3 publications dans cette catégorie
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
From the Department of Radiology (J.P.), Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
Department of Radiology (F.D.).
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
Department of Clinical Genetics (E.C.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
Department of Women, Child and General and Specialized Surgery (S.P.), University of Campania "Luigi Vanvitelli," Naples, Italy.
Department of Paediatric Oncology (S.P.), Neuro-Oncology Unit, Santobono-Pausilipon Children's Hospital, Naples, Italy.
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
Department of Radiology (G.M.), Columbia University Irving Medical Center, New York, New York.
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
Department of Radiology (C.D.R.), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
Department of Radiology (A.F.J.), Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts amy_juliano@meei.harvard.edu.
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
Department of Anatomy & Cell Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC 20037, USA.
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
Department of Anatomy & Cell Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC 20037, USA.
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
Department of Otorhinolaryngology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
Department of Otorhinolaryngology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
Department of Otorhinolaryngology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
Department of Otorhinolaryngology, Xiangya Hospital, Central South University, Changsha, China.
Key Laboratory of Otolaryngology Major Disease Research of Hunan Province, Changsha, China.
National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, China.
Publications dans "Syndrome branchio-oto-rénal" :
2 publications dans cette catégorie
Affiliations :
Medical Functional Experiment Center, School of Basic Medicine, Central South University, Changsha, China.
Publications dans "Syndrome branchio-oto-rénal" :
1 publication dans cette catégorie
Affiliations :
Department of Radiology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Publications dans "Syndrome branchio-oto-rénal" :
1 publication dans cette catégorie
Affiliations :
Department of Radiology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Publications dans "Syndrome branchio-oto-rénal" :
An "unwound" or "offset" cochlea has been described as a characteristic imaging feature in patients with branchio-oto-renal syndrome, and recently recognized to be associated in particular to those wi...
Temporal bone CT or MR imaging from 40 individuals with branchio-oto-renal syndrome and 40 controls was retrospectively reviewed. Cochlear offset was determined visually by 2 independent blinded reade...
The turn alignment ratio can accurately differentiate between cochleae with and without an offset (...
There is a statistically significant difference in turn alignment ratios between offset and nonoffset cochleae, with an optimal cutoff of 0.476. This cutoff value allows excellent separation of...
Branchio-oto-renal (BOR) syndrome is an inherited multi-systemic disorder. Auricular and branchial signs are highly suggestive of BOR syndrome but often develop insidiously, leading to a remarkable mi...
Three cases, aged 8 ~ 9 years, visited pediatric nephrology department mainly for proteinuria and renal insufficiency, with 24-h proteinuria of 23.8 ~ 68.9 mg/kg and estimated glomerular filtration ra...
BOR syndrome is a rare cause of proteinuria and abnormal kidney function and easily missed, thus requiring more awareness. Careful medical history taking and physical examination are essential to earl...
Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by deafness, branchiogenic malformations and renal abnormalities. Pathogenic variants in EYA1, SIX1 and SIX5 genes cau...
We report two unrelated patients with BOR syndrome clinical features, negative sequencing for BOR genes and the identification of a 2.65 Mb 8q13.2-13.3 microdeletion....
We highlight the value of CNV analyses in high level of suspicion for BOR syndrome but negative sequencing for BOR genes and we propose an innovative diagnostic flow-chart to increase current detectio...
To explore the phenotypes and genotypes of patients with branchio-oto-renal (BOR) and branchio-otic (BO) syndrome, and to analyze the middle ear surgery outcomes qualitatively and quantitatively, prop...
Retrospective cohort study....
Tertiary referral center....
Eighteen patients with BOR/BO syndrome in 12 unrelated Korean families....
Middle ear surgery, including either stapes surgery or ossicular reconstruction....
Clinical phenotypes, genotypes, and middle ear surgery outcomes....
Eight probands (66.7%) were confirmed genetically; the condition segregated as a dominant or de novo trait. Six EYA1 heterozygous variants were identified by exome sequencing and multiplex ligation-de...
The results of this study were against the notion that middle ear surgery is always contraindicated in patients with BOR/BO syndrome, and an EVA could be a negative prognostic indicator of middle ear ...
Branchio-oto-renal (BOR) and branchio-otic (BO) syndromes are characterized by anomalies affecting the ears, often accompanied by hearing loss, as well as abnormalities in the branchial arches and ren...
Branchio-oto-renal syndrome (BOR syndrome) is a rare genetic disorder with an incidence of 1 in 40,000, affecting the development of multiple organs, including the branchio, ear and kidney. It is resp...
In this study, we focused on the EYA1 gene, which accounts for over 40% of BOR syndrome cases, and conducted a screening of candidate enhancers within a 250 kb region upstream and downstream of the ge...
Our findings revealed that out of the 11 conserved non-coding elements (CNEs) examined, four exhibited enhancer activity. Notably, CNE16.39 and CNE16.45 displayed tissue-specific enhancer activity in ...
This study contributes to the understanding of the regulatory network governing EYA1 expression and offers new insights to further clarify the pathogenic role of EYA1 in BOR syndrome....
Branchio-otic syndrome (BO) is one of the most common types of syndromic hearing impairment (HI) with an incidence of 1/40,000 globally. It is an autosomal dominant disorder typically characterized by...
After a careful clinical examination, a pure tone audiometry was performed. DNA was extracted from peripheral blood and whole exome, and Sanger sequencing were performed for genetic analysis....
Eight individuals from a large non-consanguineous Malian family, with autosomal dominant inheritance were enrolled. The ages at diagnosis ranged from 8 to 54 years. A high phenotypic variability was n...
This is the first genetically confirmed case of BO syndrome caused by EYA1 variant in the sub-Saharan African population, expanding the genetic spectrum of the condition....
Unexplained diarrhea and cholestasis are common clinical phenotypes in newborns, indicating there is only a little common genetic basis for these conditions. However, it has been reported that defects...
Branchio-oto-renal (BOR)/branchio-otic (BO) syndrome is a rare disorder and exhibits clinically heterogenous phenotypes, marked by abnormalities in the ear, branchial arch, and renal system. Sporadic ...