questionsmedicales.fr
Malformations et maladies congénitales, héréditaires et néonatales
Malformations
Malformations du système stomatognathique
Malformations de la bouche
Malformations de la bouche : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Anomalies Congénitales
Diagnostic Médical
Imagerie Médicale
Anomalies Congénitales
Anomalies Congénitales
Nouveau-né
Échographie
Anomalies Congénitales
Chirurgie Maxillo-Faciale
Orthodontie
Symptômes
5
Symptômes
Anomalies Congénitales
Douleur
Anomalies Congénitales
Infection
Anomalies Congénitales
Troubles de la Parole
Anomalies Congénitales
Anomalies Dentaires
Anomalies Congénitales
Prévention
5
Prévention
Soins Prénatals
Acide Folique
Prévention des Malformations
Vaccination
Prévention des Malformations
Facteurs Environnementaux
Anomalies Congénitales
Traitements
5
Chirurgie
Soins Conservateurs
Traitement Précoce
Anomalies Congénitales
Soins Post-Opératoires
Douleur
Efficacité du Traitement
Anomalies Congénitales
Complications
5
Nutrition
Anomalies Congénitales
Santé Mentale
Anomalies Congénitales
Croissance
Anomalies Congénitales
Complications à Long Terme
Anomalies Dentaires
Facteurs de risque
5
Facteurs de Risque
Anomalies Congénitales
Âge Maternel
Anomalies Congénitales
Médicaments
Anomalies Congénitales
Infections
Anomalies Congénitales
Nutrition
Anomalies Congénitales
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"@type": "Question",
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"name": "Les malformations de la bouche causent-elles des douleurs ?",
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"name": "Y a-t-il des signes d'infection associés ?",
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"@type": "Question",
"name": "Les malformations affectent-elles la parole ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles peuvent entraîner des troubles de la parole en raison de la position des organes buccaux."
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{
"@type": "Question",
"name": "Peut-on observer des malformations dentaires ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des malformations de la bouche peuvent également entraîner des anomalies dentaires."
}
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{
"@type": "Question",
"name": "Peut-on prévenir les malformations de la bouche ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines malformations peuvent être prévenues par une bonne nutrition et des soins prénatals."
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"@type": "Question",
"name": "Quel rôle joue l'acide folique dans la prévention ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'acide folique réduit le risque de malformations congénitales, y compris buccales."
}
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{
"@type": "Question",
"name": "Les habitudes maternelles influencent-elles ces malformations ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des habitudes comme le tabagisme ou l'alcoolisme pendant la grossesse augmentent les risques."
}
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{
"@type": "Question",
"name": "Les vaccinations maternelles sont-elles importantes ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines vaccinations peuvent réduire le risque de malformations congénitales."
}
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"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 15,
"acceptedAnswer": {
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"text": "Oui, l'exposition à des toxines environnementales peut augmenter le risque de malformations."
}
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"name": "Quels traitements sont disponibles pour ces malformations ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent la chirurgie, l'orthodontie et la thérapie de la parole."
}
},
{
"@type": "Question",
"name": "La chirurgie est-elle toujours nécessaire ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Pas toujours, certaines malformations peuvent être gérées par des soins conservateurs."
}
},
{
"@type": "Question",
"name": "À quel âge peut-on traiter ces malformations ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement peut commencer dès la naissance ou être planifié selon la gravité."
}
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{
"@type": "Question",
"name": "Y a-t-il des soins post-opératoires spécifiques ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des soins post-opératoires incluent le suivi de la cicatrisation et la gestion de la douleur."
}
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"@type": "Question",
"name": "Les traitements sont-ils efficaces ?",
"position": 20,
"acceptedAnswer": {
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"text": "La plupart des traitements sont efficaces, mais le succès dépend de la gravité de la malformation."
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"name": "Quelles complications peuvent survenir après un traitement ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications peuvent inclure des infections, des cicatrices ou des problèmes fonctionnels."
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"@type": "Question",
"name": "Les malformations de la bouche entraînent-elles des problèmes nutritionnels ?",
"position": 22,
"acceptedAnswer": {
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"text": "Oui, elles peuvent causer des difficultés à manger, entraînant des carences nutritionnelles."
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"name": "Y a-t-il des risques psychologiques associés ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les malformations peuvent entraîner des problèmes d'estime de soi et d'anxiété sociale."
}
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{
"@type": "Question",
"name": "Les malformations peuvent-elles affecter la croissance ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des difficultés alimentaires peuvent impacter la croissance et le développement global."
}
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{
"@type": "Question",
"name": "Quelles sont les complications à long terme possibles ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications à long terme incluent des problèmes dentaires, de parole et d'estime de soi."
}
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{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour ces malformations ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des maladies maternelles et des habitudes de vie."
}
},
{
"@type": "Question",
"name": "L'âge maternel influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les femmes de plus de 35 ans ont un risque accru de malformations congénitales."
}
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{
"@type": "Question",
"name": "Les médicaments pendant la grossesse sont-ils un risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains médicaments peuvent augmenter le risque de malformations buccales."
}
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"@type": "Question",
"name": "Les infections maternelles peuvent-elles affecter le fœtus ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines infections comme la rubéole peuvent causer des malformations congénitales."
}
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"@type": "Question",
"name": "L'alimentation maternelle joue-t-elle un rôle ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une alimentation pauvre en nutriments peut augmenter le risque de malformations."
}
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 02/05/2025
Contenu vérifié selon les dernières recommandations médicales
2 publications dans cette catégorie
Publications dans "Malformations de la bouche" :
2 publications dans cette catégorie
Publications dans "Malformations de la bouche" :
2 publications dans cette catégorie
Publications dans "Malformations de la bouche" :
1 publication dans cette catégorie
Affiliations :
Jiangsu Key Laboratory of Druggability of Biopharmaceuticals, School of Life Science and Technology, China Pharmaceutical University, Nanjing, China.
Publications dans "Malformations de la bouche" :
1 publication dans cette catégorie
Affiliations :
Jiangsu Key Laboratory of Druggability of Biopharmaceuticals, School of Life Science and Technology, China Pharmaceutical University, Nanjing, China.
Publications dans "Malformations de la bouche" :
1 publication dans cette catégorie
Affiliations :
Jiangsu Key Laboratory of Druggability of Biopharmaceuticals, School of Life Science and Technology, China Pharmaceutical University, Nanjing, China.
Publications dans "Malformations de la bouche" :
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Jiangsu Key Laboratory of Druggability of Biopharmaceuticals, School of Life Science and Technology, China Pharmaceutical University, Nanjing, China.
Publications dans "Malformations de la bouche" :
1 publication dans cette catégorie
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Jiangsu Key Laboratory of Druggability of Biopharmaceuticals, School of Life Science and Technology, China Pharmaceutical University, Nanjing, China.
Publications dans "Malformations de la bouche" :
1 publication dans cette catégorie
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Jiangsu Key Laboratory of Druggability of Biopharmaceuticals, School of Life Science and Technology, China Pharmaceutical University, Nanjing, China.
Publications dans "Malformations de la bouche" :
1 publication dans cette catégorie
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Jiangsu Key Laboratory of Druggability of Biopharmaceuticals, School of Life Science and Technology, China Pharmaceutical University, Nanjing, China.
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Children's Hospital of Nanjing Medical University, Nanjing, China. Electronic address: medtronic@163.com.
Publications dans "Malformations de la bouche" :
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Jiangsu Key Laboratory of Druggability of Biopharmaceuticals, School of Life Science and Technology, China Pharmaceutical University, Nanjing, China. Electronic address: guowei1205@cpu.edu.cn.
Publications dans "Malformations de la bouche" :
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Department of Radiology, Graduate School of Medicine, The University of Tokyo.
Publications dans "Malformations de la bouche" :
1 publication dans cette catégorie
Affiliations :
Department of Radiology, Graduate School of Medicine, The University of Tokyo.
Division of Neuroradiology, Department of Radiology, University of Michigan.
Publications dans "Malformations de la bouche" :
1 publication dans cette catégorie
Affiliations :
Department of Radiology, Graduate School of Medicine, The University of Tokyo.
Publications dans "Malformations de la bouche" :
1 publication dans cette catégorie
Affiliations :
Department of Radiology, Graduate School of Medicine, The University of Tokyo.
Publications dans "Malformations de la bouche" :
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Department of Oral Diagnostic Sciences, Nihon University School of Dentistry.
Publications dans "Malformations de la bouche" :
1 publication dans cette catégorie
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Department of Oral Diagnostic Sciences, Nihon University School of Dentistry.
Publications dans "Malformations de la bouche" :
1 publication dans cette catégorie
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Department of Oral and Maxillofacial Radiology, Nihon University School of Dentistry.
Publications dans "Malformations de la bouche" :
1 publication dans cette catégorie
Affiliations :
Department of Radiology, Graduate School of Medicine, The University of Tokyo.
Publications dans "Malformations de la bouche" :
Valid, responsive blood biomarkers specific to peripheral nerve damage would improve management of peripheral nervous system (PNS) diseases. Neurofilament light chain (NfL) is sensitive for detecting ...
The light-sensitive outer segment organelle of photoreceptor cells contains a stack of hundreds of flat, disc-shaped membranes called discs. The rims of these discs contain a photoreceptor-specific te...
To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene....
A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual ac...
The median age at symptom onset was 40 years (range, 4-78 years). FAF phenotypes included normal (5%), butterfly pattern dystrophy, or vitelliform macular dystrophy (11%), central areolar choroidal dy...
We described six distinct FAF phenotypes associated with variants in the PRPH2 gene. One FAF phenotype may have multiple ERG phenotypes, demonstrating a discordance between structure and function. Giv...
More than 200 different mutations in peripherin-2 (PRPH2) are associated with multiple subtypes of inherited retinal diseases (IRDs), including retinitis pigmentosa and cone or macular diseases. Our g...
Eleven patients had clinical assessments including best-corrected visual acuity (BCVA), full field and multifocal electroretinography (ERG), static (spot size V) and kinetic perimetry (Octopus 900), a...
Patients with the P210R mutation had BCVA (Snellen) ranging from 20/15 to 20/80. Perimetry showed a reduction in sensitivity, while ERG findings suggested that cone function was more impaired than rod...
Rod and cone sensitivities were decreased in subjects with the P210R mutation in PRPH2. There was scotomatous vision loss that occurred within the macula, likely due to atrophy that occurs after druse...
Heterozygous peripherin mutation is associated with a wide range of typically adult-onset retinal phenotypes which can include asymptomatic maculopathy. There are few reports of biallelic peripherin m...
Retrospective case series....
A 13-year-old Emirati boy was referred for low vision. The parents felt he was blind at birth but noted improvement with time. Retinal examination was significant for central macula horizontal ovoid d...
The experience with this family highlights clinical features suggestive for biallelic peripherin mutations, documents cone-rod dysfunction as associated with homozygosity for the p.Arg220Gln peripheri...
Intermediate filaments are the most heterogeneous class among cytoskeletal elements. While some of them have been well-characterized, little is known about peripherin. Peripherin is a class III interm...
Mutations in peripherin 2 (PRPH2) are associated with a spectrum of inherited retinal diseases (IRDs) including retinitis pigmentosa (RP) and macular degeneration. As PRPH2 is localized to cone and ro...
We sought to explore whether sex imbalances are discernible in several autosomally inherited macular dystrophies....
We searched the electronic patient records of our large inherited retinal disease cohort, quantifying numbers of males and females with the more common (non-ABCA4) inherited macular dystrophies (assoc...
Of 325 patients included, numbers for BEST1, EFEMP1, PROM1, PRPH2, RP1L1, and TIMP3 were 152, 35, 30, 50, 14, and 44, respectively. For autosomal dominant Best disease (n = 115), there were fewer fema...
This exploratory study found significant sex imbalances in two autosomal macular dystrophies, suggesting that sex could be a modifier. Our findings invite replication in further cohorts and the invest...
The present study investigated retinal glia and choroidal vessels in flatmounts and sections from individuals with clinically diagnosed Stargardt disease (STGD)....
Eyes from three donors clinically diagnosed with STGD were obtained through the Foundation Fighting Blindness (FFB). Genetic testing was performed to determine the disease-causing mutations. Eyes were...
Genetic testing confirmed the STGD diagnosis in donor 1, whereas a mutation in peripherin 2 was identified in donor 3. Genetic testing was not successful on donor 2. Therefore, only donor 1 can defini...
Despite bearing different genetic mutations, all donors demonstrated choriocapillaris loss and Müller cell membranes correlating with RPE loss. Müller cell remodeling was most extensive in the donor w...
Prph2 is a photoreceptor-specific tetraspanin with an essential role in the structure and function of photoreceptor outer segments. PRPH2 mutations cause a multitude of retinal diseases characterized ...