questionsmedicales.fr
Malformations et maladies congénitales, héréditaires et néonatales
Malformations
Malformations : Questions médicales fréquentes
Diagnostic
5
Anomalies Congénitales
Échographie
Imagerie Médicale
Tests Génétiques
Amniocentèse
Villosités Choriales
Échographie
Diagnostic Prénatal
Anomalies Congénitales
Examen Physique
Anomalies Congénitales
Diagnostic
Antécédents Familiaux
Anomalies Congénitales
Facteurs Génétiques
Symptômes
5
Symptômes
Anomalies Congénitales
Développement
Anomalies Congénitales
Asymptomatique
Diagnostic
Développement
Anomalies Congénitales
Retard de Développement
Douleur
Anomalies Congénitales
Syndrome de Douleur
Signes Cliniques
Anomalies Congénitales
Symptômes
Prévention
5
Prévention
Soins Prénatals
Nutrition
Tabagisme
Anomalies Congénitales
Grossesse
Alcool
Anomalies Congénitales
Syndrome d'Alcoolisation Fœtale
Vaccination
Grossesse
Prévention
Stress
Développement Fœtal
Anomalies Congénitales
Traitements
5
Traitement
Chirurgie
Thérapie Physique
Chirurgie
Anomalies Congénitales
Gestion Médicale
Thérapie Physique
Anomalies Congénitales
Réhabilitation
Médicaments
Anomalies Congénitales
Traitement Symptomatique
Prévention
Acide Folique
Anomalies Congénitales
Complications
5
Complications
Anomalies Congénitales
Infections
Décès Néonatal
Anomalies Congénitales
Risque
Qualité de Vie
Anomalies Congénitales
Défis Psychologiques
Problèmes Psychologiques
Anomalies Congénitales
Estime de Soi
Complications Chroniques
Anomalies Congénitales
Suivi Médical
Facteurs de risque
5
Facteurs de Risque
Anomalies Congénitales
Antécédents Familiaux
Âge Maternel
Anomalies Congénitales
Risque
Maladies Chroniques
Anomalies Congénitales
Diabète
Médicaments
Tératogénicité
Anomalies Congénitales
Toxines Environnementales
Anomalies Congénitales
Exposition
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"name": "Les malformations peuvent-elles causer des douleurs ?",
"position": 9,
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"name": "Quels signes doivent alerter les parents ?",
"position": 10,
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"text": "Des signes comme des difficultés respiratoires, des anomalies de la peau ou des mouvements anormaux doivent alerter."
}
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"name": "Comment prévenir les malformations congénitales ?",
"position": 11,
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"text": "La prévention inclut une bonne nutrition, des soins prénatals et l'évitement de substances nocives."
}
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"name": "Le tabagisme affecte-t-il le risque de malformations ?",
"position": 12,
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"name": "Les vaccinations sont-elles importantes pendant la grossesse ?",
"position": 14,
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"name": "Le stress maternel influence-t-il le développement fœtal ?",
"position": 15,
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}
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"name": "Quels traitements sont disponibles pour les malformations congénitales ?",
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}
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"name": "La chirurgie est-elle toujours nécessaire ?",
"position": 17,
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"text": "Non, certaines malformations peuvent être gérées sans chirurgie, selon leur gravité et leur impact."
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"name": "Comment la thérapie physique aide-t-elle ?",
"position": 18,
"acceptedAnswer": {
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"text": "La thérapie physique peut améliorer la mobilité et la force chez les enfants ayant des malformations."
}
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"@type": "Question",
"name": "Les médicaments sont-ils utilisés pour traiter les malformations ?",
"position": 19,
"acceptedAnswer": {
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"text": "Des médicaments peuvent être prescrits pour gérer des symptômes ou des complications associées."
}
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"@type": "Question",
"name": "Y a-t-il des traitements préventifs ?",
"position": 20,
"acceptedAnswer": {
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"text": "Des traitements préventifs peuvent inclure des suppléments d'acide folique pour réduire certains risques."
}
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"name": "Quelles complications peuvent survenir avec les malformations ?",
"position": 21,
"acceptedAnswer": {
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"text": "Les complications peuvent inclure des infections, des troubles de la croissance et des problèmes fonctionnels."
}
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"@type": "Question",
"name": "Les malformations congénitales augmentent-elles le risque de décès ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines malformations graves peuvent augmenter le risque de décès néonatal ou infantile."
}
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"@type": "Question",
"name": "Comment les malformations affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles peuvent entraîner des limitations physiques, des besoins médicaux accrus et des défis psychologiques."
}
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"@type": "Question",
"name": "Les malformations peuvent-elles causer des problèmes psychologiques ?",
"position": 24,
"acceptedAnswer": {
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"text": "Oui, les enfants avec des malformations peuvent développer des problèmes d'estime de soi et d'anxiété."
}
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"@type": "Question",
"name": "Y a-t-il des risques de complications à long terme ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines malformations peuvent entraîner des complications chroniques nécessitant un suivi médical."
}
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"@type": "Question",
"name": "Quels sont les principaux facteurs de risque des malformations ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des infections maternelles et des habitudes de vie."
}
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"@type": "Question",
"name": "L'âge maternel influence-t-il le risque de malformations ?",
"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 maladies chroniques de la mère affectent-elles le fœtus ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des maladies comme le diabète ou l'épilepsie peuvent augmenter le risque de malformations."
}
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"@type": "Question",
"name": "Les médicaments pris pendant la grossesse sont-ils risqués ?",
"position": 29,
"acceptedAnswer": {
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"text": "Certains médicaments peuvent être tératogènes et augmenter le risque de malformations congénitales."
}
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"name": "L'exposition à des toxines environnementales est-elle un risque ?",
"position": 30,
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"text": "Oui, l'exposition à des toxines comme les pesticides 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 11/02/2026
Contenu vérifié selon les dernières recommandations médicales
└─
Malformations dues aux médicaments et aux drogues
Abnormalities, Drug-Induced
D000014 -
C16.131.042
└─
Malformations multiples
Abnormalities, Multiple
D000015 -
C16.131.077
└─
Malformations graves
Abnormalities, Severe Teratoid
D009008 -
C16.131.085
└─
Malformations cardiovasculaires
Cardiovascular Abnormalities
D018376 -
C16.131.240
└─
Microtie congénitale
Congenital Microtia
D065817 -
C16.131.287
└─
Malformations de l'appareil digestif
Digestive System Abnormalities
D004065 -
C16.131.314
└─
Malformations oculaires
Eye Abnormalities
D005124 -
C16.131.384
└─
Malformations lymphatiques
Lymphatic Abnormalities
D044148 -
C16.131.482
└─
Malformations de l'appareil locomoteur
Musculoskeletal Abnormalities
D009139 -
C16.131.621
└─
Malformations du système nerveux
Nervous System Malformations
D009421 -
C16.131.666
└─
Malformations de l'appareil respiratoire
Respiratory System Abnormalities
D015619 -
C16.131.740
└─
Situs inversus
Situs Inversus
D012857 -
C16.131.810
└─
Malformations du système stomatognathique
Stomatognathic System Abnormalities
D018640 -
C16.131.850
└─
Malformations urogénitales
Urogenital Abnormalities
D014564 -
C16.131.939
└─└─
Syndrome de Laurence-Moon
Laurence-Moon Syndrome
D007849 -
C16.131.077.509
└─└─
Naevus sébacé de Jadassohn
Nevus, Sebaceous of Jadassohn
D054000 -
C16.131.077.633
└─└─
Syndrome de Prune Belly
Prune Belly Syndrome
D011535 -
C16.131.077.745
└─└─
Syndrome de rubéole congénitale
Rubella Syndrome, Congenital
D012410 -
C16.131.077.790
└─└─
Syndrome de Waardenburg
Waardenburg Syndrome
D014849 -
C16.131.077.938
└─└─
Enfants siamois
Twins, Conjoined
D014428 -
C16.131.085.806
└─└─
Cardiopathies congénitales
Heart Defects, Congenital
D006330 -
C16.131.240.400
└─└─
Anomalies vasculaires
Vascular Malformations
D054079 -
C16.131.240.850
└─└─
Malformations anorectales
Anorectal Malformations
D000071056 -
C16.131.314.047
└─└─
Imperforation anale
Anus, Imperforate
D001006 -
C16.131.314.094
└─└─
Atrésie des voies biliaires
Biliary Atresia
D001656 -
C16.131.314.125
└─└─
Kyste du cholédoque
Choledochal Cyst
D015529 -
C16.131.314.184
└─└─
Éventration diaphragmatique
Diaphragmatic Eventration
D003965 -
C16.131.314.244
└─└─
Atrésie de l'oesophage
Esophageal Atresia
D004933 -
C16.131.314.330
└─└─
Maladie de Hirschsprung
Hirschsprung Disease
D006627 -
C16.131.314.439
└─└─
Atrésie intestinale
Intestinal Atresia
D007409 -
C16.131.314.466
└─└─
Pancréas divisum
Pancreas Divisum
D000092142 -
C16.131.314.667
└─└─
Anomalie de jonction biliopancréatique
Pancreaticobiliary Maljunction
D000080222 -
C16.131.314.778
└─└─
Anophtalmie
Anophthalmos
D000853 -
C16.131.384.159
└─└─
Blépharophimosis
Blepharophimosis
D016569 -
C16.131.384.190
└─└─
Colobome
Coloboma
D003103 -
C16.131.384.282
└─└─
Ectopie du cristallin
Ectopia Lentis
D004479 -
C16.131.384.405
└─└─
Microphtalmie
Microphthalmos
D008850 -
C16.131.384.666
└─└─
Persistance et hyperplasie du vitré primitif
Persistent Hyperplastic Primary Vitreous
D054514 -
C16.131.384.725
└─└─
Lymphangiectasie intestinale
Lymphangiectasis, Intestinal
D008201 -
C16.131.482.500
└─└─
Arthrogrypose
Arthrogryposis
D001176 -
C16.131.621.077
└─└─
Dysplasie campomélique
Campomelic Dysplasia
D055036 -
C16.131.621.142
└─└─
Syndrome de la côte cervicale
Cervical Rib Syndrome
D002573 -
C16.131.621.174
└─└─
Malformations crâniofaciales
Craniofacial Abnormalities
D019465 -
C16.131.621.207
└─└─
Dysplasie développementale de hanche
Developmental Dysplasia of the Hip
D000082602 -
C16.131.621.297
└─└─
Thorax en entonnoir
Funnel Chest
D005660 -
C16.131.621.386
└─└─
Luxation congénitale de la hanche
Hip Dislocation, Congenital
D006618 -
C16.131.621.449
└─└─
Syndrome de Klippel-Feil
Klippel-Feil Syndrome
D007714 -
C16.131.621.551
└─└─
Anomalies morphologiques congénitales des membres
Limb Deformities, Congenital
D017880 -
C16.131.621.585
└─└─
Synostose
Synostosis
D013580 -
C16.131.621.906
└─└─
Kystes du système nerveux central
Central Nervous System Cysts
D020863 -
C16.131.666.142
└─└─
Malformations vasculaires du système nerveux central
Central Nervous System Vascular Malformations
D020785 -
C16.131.666.190
└─└─
Troubles de dysinnervation crânienne congénitale
Congenital Cranial Dysinnervation Disorders
D000093922 -
C16.131.666.198
└─└─
Syndrome de Dandy-Walker
Dandy-Walker Syndrome
D003616 -
C16.131.666.205
└─└─
Hydranencéphalie
Hydranencephaly
D006832 -
C16.131.666.450
└─└─
Malformations corticales
Malformations of Cortical Development
D054220 -
C16.131.666.507
└─└─
Anomalies du tube neural
Neural Tube Defects
D009436 -
C16.131.666.680
└─└─
Kyste bronchogénique
Bronchogenic Cyst
D001994 -
C16.131.740.195
└─└─
Séquestration bronchopulmonaire
Bronchopulmonary Sequestration
D001998 -
C16.131.740.214
└─└─
Atrésie des choanes
Choanal Atresia
D002754 -
C16.131.740.271
└─└─
Malformation congénitale kystique adénomatoïde du poumon
Cystic Adenomatoid Malformation of Lung, Congenital
D015615 -
C16.131.740.290
└─└─
Laryngocèle
Laryngocele
D059608 -
C16.131.740.650
└─└─
Laryngosténose
Laryngostenosis
D007829 -
C16.131.740.658
└─└─
Syndrome du cimeterre
Scimitar Syndrome
D012587 -
C16.131.740.815
└─└─
Trachéobronchomégalie
Tracheobronchomegaly
D014137 -
C16.131.740.830
└─└─
Dextrocardie
Dextrocardia
D003914 -
C16.131.810.250
└─└─
Lévocardie
Levocardia
D007979 -
C16.131.810.700
└─└─
Complexe de Carney
Carney Complex
D056733 -
C16.131.831.108
└─└─
Malformations maxillofaciales
Maxillofacial Abnormalities
D019767 -
C16.131.850.500
└─└─
Malformations de la bouche
Mouth Abnormalities
D009056 -
C16.131.850.525
└─└─
Malformations dentaires
Tooth Abnormalities
D014071 -
C16.131.850.800
└─└─
Exstrophie vésicale
Bladder Exstrophy
D001746 -
C16.131.939.132
└─└─
Épispadias
Epispadias
D004842 -
C16.131.939.374
└─└─
Syndrome de Fraser
Fraser Syndrome
D058497 -
C16.131.939.410
└─└─
Reins fusionnés
Fused Kidney
D000069337 -
C16.131.939.445
└─└─
Hypospadias
Hypospadias
D007021 -
C16.131.939.516
└─└─
Dysplasie rénale multikystique
Multicystic Dysplastic Kidney
D021782 -
C16.131.939.629
└─└─
Uretère rétrocave
Retrocaval Ureter
D064749 -
C16.131.939.915
└─└─
Utérus double
Uterine Duplication Anomalies
D000093662 -
C16.131.939.957
└─└─└─
Coarctation aortique
Aortic Coarctation
D001017 -
C16.131.240.400.090
└─└─└─
Tunnel aorto-ventriculaire
Aortico-Ventricular Tunnel
D000082903 -
C16.131.240.400.118
└─└─└─
Dysplasie ventriculaire droite arythmogène
Arrhythmogenic Right Ventricular Dysplasia
D019571 -
C16.131.240.400.145
└─└─└─
Maladie de la valve aortique bicuspide
Bicuspid Aortic Valve Disease
D000082882 -
C16.131.240.400.186
└─└─└─
Coeur triatrial
Cor Triatriatum
D003310 -
C16.131.240.400.200
└─└─└─
Anomalies congénitales des vaisseaux coronaires
Coronary Vessel Anomalies
D003330 -
C16.131.240.400.210
└─└─└─
Coeur croisé
Crisscross Heart
D003420 -
C16.131.240.400.220
└─└─└─
Persistance du canal artériel
Ductus Arteriosus, Patent
D004374 -
C16.131.240.400.340
└─└─└─
Maladie d'Ebstein
Ebstein Anomaly
D004437 -
C16.131.240.400.395
└─└─└─
Ectopie cardiaque
Ectopia Cordis
D054083 -
C16.131.240.400.422
└─└─└─
Complexe d'Eisenmenger
Eisenmenger Complex
D004541 -
C16.131.240.400.450
└─└─└─
Malformations des cloisons cardiaques
Heart Septal Defects
D006343 -
C16.131.240.400.560
└─└─└─
Syndrome d'hétérotaxie
Heterotaxy Syndrome
D059446 -
C16.131.240.400.592
└─└─└─
Hypoplasie du coeur gauche
Hypoplastic Left Heart Syndrome
D018636 -
C16.131.240.400.625
└─└─└─
Valve aortique quadricuspide
Quadricuspid Aortic Valve
D000082902 -
C16.131.240.400.817
└─└─└─
Tétralogie de Fallot
Tetralogy of Fallot
D013771 -
C16.131.240.400.849
└─└─└─
Transposition des gros vaisseaux
Transposition of Great Vessels
D014188 -
C16.131.240.400.915
└─└─└─
Atrésie tricuspide
Tricuspid Atresia
D018785 -
C16.131.240.400.920
└─└─└─
Trilogie de Fallot
Trilogy of Fallot
D014286 -
C16.131.240.400.960
└─└─└─
Cœur univentriculaire
Univentricular Heart
D000080039 -
C16.131.240.400.975
└─└─└─
Syndrome de Wolff-Parkinson-White
Wolff-Parkinson-White Syndrome
D014927 -
C16.131.240.400.980
└─└─└─
Malformations artérioveineuses
Arteriovenous Malformations
D001165 -
C16.131.240.850.750
└─└─└─
Syndrome de May-Thurner
May-Thurner Syndrome
D062108 -
C16.131.240.850.890
└─└─└─
Syndrome du ligament arqué médian
Median Arcuate Ligament Syndrome
D000074742 -
C16.131.240.850.898
└─└─└─
Veine cave supérieure gauche persistante
Persistent Left Superior Vena Cava
D000083402 -
C16.131.240.850.902
└─└─└─
Atrésie pulmonaire
Pulmonary Atresia
D018633 -
C16.131.240.850.906
└─└─└─
Artère ombilicale unique
Single Umbilical Artery
D058529 -
C16.131.240.850.952
└─└─└─
Télangiectasie hémorragique héréditaire
Telangiectasia, Hereditary Hemorrhagic
D013683 -
C16.131.240.850.968
└─└─└─
Anneau vasculaire
Vascular Ring
D000073872 -
C16.131.240.850.984
└─└─└─
Dysostose cleido-crânienne héréditaire
Cleidocranial Dysplasia
D002973 -
C16.131.621.207.207
└─└─└─
Dysostose craniofaciale
Craniofacial Dysostosis
D003394 -
C16.131.621.207.231
└─└─└─
Plagiocéphalie
Plagiocephaly
D059041 -
C16.131.621.207.707
└─└─└─
Platybasie
Platybasia
D010985 -
C16.131.621.207.720
└─└─└─
Arachnodactylie
Arachnodactyly
D054119 -
C16.131.621.585.174
└─└─└─
Brachydactylie
Brachydactyly
D059327 -
C16.131.621.585.262
└─└─└─
Ectromélie
Ectromelia
D004480 -
C16.131.621.585.350
└─└─└─
Anomalies morphologiques congénitales du membre inférieur
Lower Extremity Deformities, Congenital
D038061 -
C16.131.621.585.512
└─└─└─
Polydactylie
Polydactyly
D017689 -
C16.131.621.585.600
└─└─└─
Syndrome de Protée
Proteus Syndrome
D016715 -
C16.131.621.585.620
└─└─└─
Anomalies morphologiques congénitales du membre supérieur
Upper Extremity Deformities, Congenital
D038062 -
C16.131.621.585.988
└─└─└─
Craniosynostoses
Craniosynostoses
D003398 -
C16.131.621.906.364
└─└─└─
Syndactylie
Syndactyly
D013576 -
C16.131.621.906.819
└─└─└─
Coalition tarsienne
Tarsal Coalition
D000070604 -
C16.131.621.906.909
└─└─└─
Syndrome acrocalleux
Acrocallosal Syndrome
D055673 -
C16.131.666.034.500
└─└─└─
Kystes arachnoïdiens
Arachnoid Cysts
D016080 -
C16.131.666.142.100
└─└─└─
Kystes colloïdes
Colloid Cysts
D056364 -
C16.131.666.142.200
└─└─└─
Angiome veineux du système nerveux central
Central Nervous System Venous Angioma
D020787 -
C16.131.666.190.100
└─└─└─
Hémangiome caverneux du système nerveux central
Hemangioma, Cavernous, Central Nervous System
D020786 -
C16.131.666.190.200
└─└─└─
Malformations artérioveineuses intracrâniennes
Intracranial Arteriovenous Malformations
D002538 -
C16.131.666.190.500
└─└─└─
Sinus pericranii
Sinus Pericranii
D020779 -
C16.131.666.190.800
└─└─└─
Malformations corticales du groupe I
Malformations of Cortical Development, Group I
D065703 -
C16.131.666.507.400
└─└─└─
Malformations corticales du groupe II
Malformations of Cortical Development, Group II
D054081 -
C16.131.666.507.450
└─└─└─
Malformations corticales du groupe III
Malformations of Cortical Development, Group III
D065704 -
C16.131.666.507.500
└─└─└─
Anencéphalie
Anencephaly
D000757 -
C16.131.666.680.196
└─└─└─
Malformation d'Arnold-Chiari
Arnold-Chiari Malformation
D001139 -
C16.131.666.680.291
└─└─└─
Myéloméningocèle
Meningomyelocele
D008591 -
C16.131.666.680.610
└─└─└─
Pentalogie de Cantrell
Pentalogy of Cantrell
D058502 -
C16.131.666.680.705
└─└─└─
Dysraphie spinale
Spinal Dysraphism
D016135 -
C16.131.666.680.800
└─└─└─
Dysplasie septo-optique
Septo-Optic Dysplasia
D025962 -
C16.131.666.763.500
└─└─└─
Difformités dento-faciales
Dentofacial Deformities
D063169 -
C16.131.850.500.229
└─└─└─
Malformations de la mâchoire
Jaw Abnormalities
D007569 -
C16.131.850.500.460
└─└─└─
Bec-de-lièvre
Cleft Lip
D002971 -
C16.131.850.525.164
└─└─└─
Fente palatine
Cleft Palate
D002972 -
C16.131.850.525.185
└─└─└─
Fibromatose gingivale
Fibromatosis, Gingival
D005351 -
C16.131.850.525.304
└─└─└─
Macrostomie
Macrostomia
D008265 -
C16.131.850.525.480
└─└─└─
Microstomie
Microstomia
D008865 -
C16.131.850.525.520
└─└─└─
Insuffisance vélopharyngée
Velopharyngeal Insufficiency
D014681 -
C16.131.850.525.955
└─└─└─
Anodontie
Anodontia
D000848 -
C16.131.850.800.100
└─└─└─
Dens in dente
Dens in Dente
D003719 -
C16.131.850.800.250
└─└─└─
Dysplasie de la dentine
Dentin Dysplasia
D003805 -
C16.131.850.800.260
└─└─└─
Dentinogenèse imparfaite
Dentinogenesis Imperfecta
D003811 -
C16.131.850.800.270
└─└─└─
Anomalies de développement de l'émail
Developmental Defects of Enamel
D000094602 -
C16.131.850.800.295
└─└─└─
Diastème
Diastema
D003970 -
C16.131.850.800.320
└─└─└─
Dents fusionnées
Fused Teeth
D005671 -
C16.131.850.800.370
└─└─└─
Odontodysplasie
Odontodysplasia
D018126 -
C16.131.850.800.600
└─└─└─
Dent surnuméraire
Tooth, Supernumerary
D014096 -
C16.131.850.800.850
└─└─└─└─
Anomalie de l'artère coronaire gauche
Anomalous Left Coronary Artery
D000080038 -
C16.131.240.400.210.125
└─└─└─└─
Pont myocardique
Myocardial Bridging
D054084 -
C16.131.240.400.210.500
└─└─└─└─
Communication aortopulmonaire
Aortopulmonary Septal Defect
D001028 -
C16.131.240.400.560.098
└─└─└─└─
Canal atrioventriculaire
Endocardial Cushion Defects
D004694 -
C16.131.240.400.560.350
└─└─└─└─
Communications interauriculaires
Heart Septal Defects, Atrial
D006344 -
C16.131.240.400.560.375
└─└─└─└─
Communications interventriculaires
Heart Septal Defects, Ventricular
D006345 -
C16.131.240.400.560.540
└─└─└─└─
Syndrome de Jervell et Lange Nielsen
Jervell-Lange Nielsen Syndrome
D029593 -
C16.131.240.400.715.440
└─└─└─└─
Transposition congénitalement corrigée des gros vaisseaux
Congenitally Corrected Transposition of the Great Arteries
D000080041 -
C16.131.240.400.915.150
└─└─└─└─
Ventricule droit à double issue
Double Outlet Right Ventricle
D004310 -
C16.131.240.400.915.300
└─└─└─└─
Syndrome d'Hallermann-Streiff-François
Hallermann's Syndrome
D006210 -
C16.131.621.207.231.427
└─└─└─└─
Hypertélorisme
Hypertelorism
D006972 -
C16.131.621.207.231.480
└─└─└─└─
Dysostose mandibulofaciale
Mandibulofacial Dysostosis
D008342 -
C16.131.621.207.231.576
└─└─└─└─
Plagiocéphalie positionnelle
Plagiocephaly, Nonsynostotic
D049068 -
C16.131.621.207.707.624
└─└─└─└─
Anomalies morphologiques congénitales du pied
Foot Deformities, Congenital
D005532 -
C16.131.621.585.512.500
└─└─└─└─
Syndrome de Pallister-Hall
Pallister-Hall Syndrome
D054975 -
C16.131.621.585.600.374
└─└─└─└─
Syndrome des côtes courtes-polydactylie
Short Rib-Polydactyly Syndrome
D012779 -
C16.131.621.585.600.750
└─└─└─└─
Anomalies morphologiques congénitales de la main
Hand Deformities, Congenital
D006228 -
C16.131.621.585.988.500
└─└─└─└─
Acrocéphalosyndactylie
Acrocephalosyndactylia
D000168 -
C16.131.621.906.819.100
└─└─└─└─
Syndrome de Poland
Poland Syndrome
D011045 -
C16.131.621.906.819.756
└─└─└─└─
Malformations de la veine de Galien
Vein of Galen Malformations
D054080 -
C16.131.666.190.500.500
└─└─└─└─
Dysplasie corticale focale
Focal Cortical Dysplasia
D000092222 -
C16.131.666.507.400.125
└─└─└─└─
Sclérose de l'hippocampe
Hippocampal Sclerosis
D000092223 -
C16.131.666.507.400.187
└─└─└─└─
Mégalencéphalie
Megalencephaly
D058627 -
C16.131.666.507.400.249
└─└─└─└─
Microcéphalie
Microcephaly
D008831 -
C16.131.666.507.400.500
└─└─└─└─
Lissencéphalie
Lissencephaly
D054082 -
C16.131.666.507.450.499
└─└─└─└─
Hétérotopie nodulaire périventriculaire
Periventricular Nodular Heterotopia
D054091 -
C16.131.666.507.450.750
└─└─└─└─
Polymicrogyrie
Polymicrogyria
D065706 -
C16.131.666.507.500.500
└─└─└─└─
Porencéphalie
Porencephaly
D065708 -
C16.131.666.507.500.625
└─└─└─└─
Schizencéphalie
Schizencephaly
D065707 -
C16.131.666.507.500.750
└─└─└─└─
Spina bifida cystica
Spina Bifida Cystica
D016137 -
C16.131.666.680.800.730
└─└─└─└─
Spina bifida occulta
Spina Bifida Occulta
D016136 -
C16.131.666.680.800.750
└─└─└─└─
Micrognathisme
Micrognathism
D008844 -
C16.131.850.500.460.457
└─└─└─└─
Syndrome de Pierre Robin
Pierre Robin Syndrome
D010855 -
C16.131.850.500.460.606
└─└─└─└─
Prognathisme
Prognathism
D011378 -
C16.131.850.500.460.655
└─└─└─└─
Rétrognathie
Retrognathia
D063173 -
C16.131.850.500.460.827
└─└─└─└─
Amélogenèse imparfaite
Amelogenesis Imperfecta
D000567 -
C16.131.850.800.295.250
└─└─└─└─
Hypominéralisation de l'émail dentaire
Dental Enamel Hypomineralization
D000094603 -
C16.131.850.800.295.500
└─└─└─└─
Hypoplasie de l'émail dentaire
Dental Enamel Hypoplasia
D003744 -
C16.131.850.800.295.625
└─└─└─└─└─
Tronc artériel commun
Truncus Arteriosus, Persistent
D014339 -
C16.131.240.400.560.098.500
└─└─└─└─└─
Foramen ovale perméable
Foramen Ovale, Patent
D054092 -
C16.131.240.400.560.375.258
└─└─└─└─└─
Syndrome de Lutembacher
Lutembacher Syndrome
D008185 -
C16.131.240.400.560.375.518
└─└─└─└─└─
Syndrome de Goldenhar
Goldenhar Syndrome
D006053 -
C16.131.621.207.231.576.410
└─└─└─└─└─
Pied bot
Talipes
D000070558 -
C16.131.621.585.512.500.681
└─└─└─└─└─
Hémimégalencéphalie
Hemimegalencephaly
D065705 -
C16.131.666.507.400.249.500
└─└─└─└─└─
Lissencéphalie pavimenteuse
Cobblestone Lissencephaly
D054222 -
C16.131.666.507.450.499.249
└─└─└─└─└─
Fluorose dentaire
Fluorosis, Dental
D009050 -
C16.131.850.800.295.500.500
└─└─└─└─└─
Hypominéralisation des molaires
Molar Hypomineralization
D000094604 -
C16.131.850.800.295.500.750
└─└─└─└─└─└─
Pied bot varus équin congénital
Clubfoot
D003025 -
C16.131.621.585.512.500.681.063
└─└─└─└─└─└─
Pied bot équin
Equinus Deformity
D004863 -
C16.131.621.585.512.500.681.125
└─└─└─└─└─└─
Pied plat
Flatfoot
D005413 -
C16.131.621.585.512.500.681.250
└─└─└─└─└─└─
Pied creux
Talipes Cavus
D000070589 -
C16.131.621.585.512.500.681.500
4 publications dans cette catégorie
Affiliations :
Department of Paediatric Surgery and Intensive Care, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.
Publications dans "Malformations" :
4 publications dans cette catégorie
Affiliations :
Department of Paediatric Pulmonology, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.
Department of Radiology and Nuclear Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands.
Publications dans "Malformations" :
4 publications dans cette catégorie
Affiliations :
Department of Paediatric Surgery and Intensive Care, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.
Publications dans "Malformations" :
4 publications dans cette catégorie
Affiliations :
Department of Paediatric Surgery and Intensive Care, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands, j.schnater@erasmusmc.nl.
Publications dans "Malformations" :
3 publications dans cette catégorie
Affiliations :
Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands.
Publications dans "Malformations" :
3 publications dans cette catégorie
Affiliations :
Department of Paediatric Pulmonology, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, the Netherlands.
Department of Radiology, Erasmus University Medical Centre, Rotterdam, the Netherlands.
Publications dans "Malformations" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands.
Publications dans "Malformations" :
2 publications dans cette catégorie
Affiliations :
Department of Paediatric Pulmonology and Allergology, Erasmus MC - Sophia Children's Hospital, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Department of Radiology and Nuclear Medicine, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Publications dans "Malformations" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatric Orthopedics, Armand Trousseau Hospital - Sorbonne University, 26 Avenue du Dr Arnold Netter, 75012 Paris, France.
Publications dans "Malformations" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatric Orthopedics, Armand Trousseau Hospital - Sorbonne University, 26 Avenue du Dr Arnold Netter, 75012 Paris, France. Electronic address: franck.fitoussi@aphp.fr.
Publications dans "Malformations" :
1 publication dans cette catégorie
Affiliations :
Centre de référence sur les agents tératogènes (CRAT), DMU ESPRIT (Épidémiologie et biostatistique, sante publique, pharmacie, pharmacologie, recherche, information medicale, therapeutique et medicaments), GHU, AP-HP Sorbonne Université, Site Trousseau, 26, avenue Dr Netter, 75571 Paris cedex 12, France. Electronic address: benedicte.coulm@aphp.fr.
Publications dans "Malformations" :
1 publication dans cette catégorie
Affiliations :
Service d'ophtalmologie, hôpital Nord, centre hospitalier universitaire de l'hôpital Nord, chemin des Bourrely, 13015 Marseille, France. Electronic address: dandenis@wanadoo.fr.
Publications dans "Malformations" :
1 publication dans cette catégorie
Affiliations :
Service d'ophtalmologie, hôpital Nord, centre hospitalier universitaire de l'hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
Publications dans "Malformations" :
1 publication dans cette catégorie
Affiliations :
Service d'ophtalmologie, hôpital Nord, centre hospitalier universitaire de l'hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
Publications dans "Malformations" :
1 publication dans cette catégorie
Affiliations :
Service d'ophtalmologie, hôpital Nord, centre hospitalier universitaire de l'hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
Publications dans "Malformations" :
1 publication dans cette catégorie
Affiliations :
Service d'ophtalmologie, hôpital Nord, centre hospitalier universitaire de l'hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
Publications dans "Malformations" :
1 publication dans cette catégorie
Affiliations :
Service d'ophtalmologie, hôpital Nord, centre hospitalier universitaire de l'hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
Publications dans "Malformations" :
1 publication dans cette catégorie
Affiliations :
Hôtel-Dieu, 1 place Alexis-Ricordeau, 44000 Nantes, France.
Publications dans "Malformations" :
1 publication dans cette catégorie
Affiliations :
Department of Diagnostic Imaging, Rhode Island Hospital, 593 Eddy St., Providence, RI, 02903, USA. furman.m@gmail.com.
Publications dans "Malformations" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatric Radiology, Boston Children's Hospital, Boston, MA, USA.
Publications dans "Malformations" :
Congenital anomalies of the external auditory canal (EAC) are classically divided into congenital aural atresia (CAA) and congenital aural stenosis (CAS). CAA can present as an isolated anomaly, unila...
Diabetes mellitus (DM) is the most common metabolic disorder in pregnancy. Women with Type 2 DM seems to have no better perinatal outcomes than those with Type 1 DM....
Single-center prospective cohort observational study. Pregnant women with diabetes (141 with Type 1 DM and 124 with Type 2 DM) that were followed in the university hospital between 2009 and 2021 were ...
As expected, women with Type 1 DM were younger and had a longer duration of diabetes than women with Type 2 DM. Obesity and chronic hypertension were higher in the group of women with Type 2 DM and th...
Newborns born to mothers with Type 1 DM were larger and had a higher frequency of hypoglycemia, while congenital malformations and precocious preterm was more associated to Type 2 DM. Metabolic contro...
To explore the risk of being prescribed/dispensed medications for respiratory symptoms and breathing difficulties in children with and without congenital anomalies....
A EUROlinkCAT population-based data linkage cohort study. Data on children with and without congenital anomalies were linked to prescription databases to identify children who did/did not receive anti...
Children born 2000-2014 in six regions within five European countries....
60 662 children with congenital anomalies and 1 722 912 reference children up to age 10 years....
Relative risks (RR) of >1 antiasthmatic prescription in a year, identified using Anatomical Therapeutic Chemical classification codes beginning with R03....
There were significant differences in the prescribing of antiasthmatics in the six regions. Children with congenital anomalies had a significantly higher risk of being prescribed antiasthmatics (RR 1....
This study documents the additional burden of respiratory symptoms and breathing difficulties for children with congenital anomalies, particularly those born preterm, compared with children without co...
Congenital anomalies represent a significant contributor to infant mortality, morbidity, and enduring disability. With this in mind, the present investigation endeavour to ascertain the pooled prevale...
PubMed, Google Scholar, CINAHAL, Hinari, and Global Health databases were systematically searched. Joanna Briggs Institute (JBI) assessment checklist was used to assess quality of included studies. Da...
A total of 18 studies with 519,327 participants were included in the study. Pooled prevalence of congenital anomalies in Ethiopia was 2% (95% CI: 0.02, 0.03%). Among affected newborns neural tube defe...
In this review, prevalence of congenital anomalies in Ethiopia was high with considerable regional variation. The most common type of congenital anomaly in Ethiopia was neural tube defects, followed b...
Fetal anomalies among young women and adolescents pose major public health concerns. This systematic review aims to elucidate the relationship between young maternal age and the incidence of fetal abn...
This study aimed to investigate the feasibility and effectiveness of utilizing three-dimensional (3D) printing technology in the simulation teaching of congenital malformations....
We conducted a comparative analysis between an experimental group that received traditional teaching supplemented with 3D printing model demonstrations and hands-on model operation, and a control grou...
The results showed no significant difference in theoretical test scores between the two groups (91.92 ± 15.04 vs. 89.44 ± 14.89), but the practical test revealed a significantly higher number of quali...
3D printing technology can be effectively utilized to create surgical teaching models, enhancing the confidence of standardized training doctors and improving teaching outcomes....
Congenital anomalies are a leading cause of morbidity and mortality worldwide. We aimed to review the common surgically correctable congenital anomalies with recent updates on the global disease burde...
A literature review was done to assess the burden of surgical congenital anomalies with emphasis on those that present within the first 8000 days of life. The various patterns of diseases were analyze...
Surgical problems such as digestive congenital anomalies, congenital heart disease and neural tube defects are now seen more frequently. The burden of disease weighs more heavily on LMIC. Cleft lip an...
Congenital heart disease and neural tube defects are the most common congenital surgical diseases; however, easily treatable gastrointestinal anomalies are underdiagnosed due to the invisible nature o...
The objective of the study was to explore the impact of paternal age on the risk of congenital anomalies and birth outcomes in infants born in the USA between 2016 and 2021. This retrospective cohort ...
With the advancement of prenatal diagnosis technology, the detection rate of fetal abnormalities continues to increase, imposing a significant burden on both society and families. A retrospective anal...
To retrospectively analyze the pregnancy outcomes of women with fetal abnormalities and explore the factors that influence these outcomes....
Pregnant women's pregnancy outcomes were collected from the medical information system and through telephone follow-ups. The chi-square test and logistic regression were used to analyze the factors in...
Among 265 pregnant women diagnosed with fetal abnormalities, 190 chose to continue the pregnancy, while 75 chose to terminate it. Pregnant women with multiple fetal abnormalities (OR = 3.774, 95% CI [...
The number of organs involved in fetal abnormalities and treatment recommendations were identified as the primary factors influencing pregnancy outcomes. Improving awareness of maternal health care du...
Congenital malformations of the pinna and aural atresia can result in major aesthetic and functional deficits. Knowledge about embryologic developments and established classification systems is an ess...