Comment diagnostique-t-on une malformation crâniofaciale ?

Le diagnostic se fait par examen clinique et imageries comme les radiographies ou IRM.

Quels tests génétiques sont utilisés ?

Des tests génétiques peuvent identifier des syndromes associés aux malformations.

Les échographies peuvent-elles détecter ces malformations ?

Oui, certaines malformations peuvent être détectées par échographie prénatale.

Quel rôle joue la consultation pluridisciplinaire ?

Elle permet d'évaluer l'impact fonctionnel et esthétique des malformations.

Les antécédents familiaux influencent-ils le diagnostic ?

Oui, des antécédents familiaux peuvent augmenter le risque de malformations.

Quels sont les symptômes courants des malformations crâniofaciales ?

Les symptômes incluent des déformations faciales, des problèmes de croissance et des troubles respiratoires.

Les malformations affectent-elles la fonction auditive ?

Oui, certaines malformations peuvent entraîner des problèmes d'audition.

Y a-t-il des problèmes d'alimentation associés ?

Oui, des malformations peuvent causer des difficultés d'alimentation et de déglutition.

Les malformations peuvent-elles causer des troubles psychologiques ?

Oui, l'apparence physique peut affecter l'estime de soi et entraîner des troubles psychologiques.

Les malformations crâniofaciales sont-elles visibles à la naissance ?

Oui, beaucoup de malformations sont visibles dès la naissance ou peu après.

Peut-on prévenir les malformations crâniofaciales ?

Certaines malformations peuvent être prévenues par des soins prénatals appropriés.

Quel rôle joue la nutrition pendant la grossesse ?

Une bonne nutrition, notamment l'acide folique, réduit le risque de malformations.

Les vaccinations influencent-elles le risque ?

Oui, certaines vaccinations peuvent prévenir des infections qui causent des malformations.

L'évitement de l'alcool est-il important ?

Oui, l'alcool pendant la grossesse augmente le risque de malformations congénitales.

Les consultations prénatales sont-elles essentielles ?

Oui, elles permettent de surveiller la santé de la mère et du fœtus.

Quels traitements sont disponibles pour ces malformations ?

Les traitements incluent la chirurgie reconstructive, l'orthodontie et la thérapie physique.

La chirurgie est-elle toujours nécessaire ?

Non, certains cas peuvent être gérés sans chirurgie, selon la gravité.

Quels sont les risques associés à la chirurgie ?

Les risques incluent l'infection, les saignements et des complications anesthésiques.

Comment l'orthodontie aide-t-elle ?

L'orthodontie corrige les malpositions dentaires et améliore la fonction masticatoire.

Y a-t-il des traitements non chirurgicaux ?

Oui, des traitements comme la thérapie physique et l'orthophonie peuvent être bénéfiques.

Quelles complications peuvent survenir après la chirurgie ?

Les complications incluent l'infection, la cicatrisation anormale et des douleurs chroniques.

Les malformations crâniofaciales entraînent-elles des problèmes respiratoires ?

Oui, certaines malformations peuvent obstruer les voies respiratoires.

Y a-t-il des risques de troubles de la croissance ?

Oui, des malformations peuvent affecter la croissance physique et le développement.

Les malformations peuvent-elles causer des problèmes sociaux ?

Oui, l'apparence physique peut entraîner des difficultés d'intégration sociale.

Quelles sont les complications psychologiques possibles ?

Les enfants peuvent développer des troubles de l'anxiété ou de la dépression.

Quels sont les principaux facteurs de risque ?

Les facteurs incluent des antécédents familiaux, des infections et des habitudes de vie.

Le tabagisme pendant la grossesse est-il un facteur ?

Oui, le tabagisme augmente le risque de malformations congénitales.

Les maladies maternelles influencent-elles le risque ?

Oui, des maladies comme le diabète peuvent augmenter le risque de malformations.

L'âge maternel joue-t-il un rôle ?

Oui, les femmes plus âgées ont un risque accru de malformations congénitales.

Les médicaments peuvent-ils être un facteur de risque ?

Oui, certains médicaments peuvent causer des malformations s'ils sont pris pendant la grossesse.

Malformations crâniofaciales - Informations médicales vérifiées

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.

10 2023

DOI: 10.1016/j.gim.2023.100927 PMID: 37422718

The SF3B splicing complex is composed of SF3B1-6 and PHF5A. We report a developmental disorder caused by de novo variants in PHF5A.... Clinical, genomic, and functional studies using subject-derived fibroblasts and a heterologous cellular system were performed.... We studied 9 subjects with congenital malformations, including preauricular tags and hypospadias, growth abnormalities, and developmental delay who had de novo heterozygous PHF5A variants, including 4... Our data suggest the existence of feedback mechanisms in fibroblasts with PHF5A LOF variants to maintain normal levels of SF3B components. These compensatory mechanisms in subject fibroblasts with PHF...

Male Humans Hypospadias RNA Splicing Factors RNA Splicing +4 autres

Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C.

Mar 2024

DOI: 10.1002/pd.6506 PMID: 38163266

Raine syndrome (MIM 259775) is a rare autosomal recessive disorder, first described by Raine et al. in 1989, with an estimated prevalence of <1/1,000,000. This is due to pathogenic variants in FAM20C ...

Male Infant Humans Pregnancy Female +13 autres

Deep learning technique to detect craniofacial anatomical abnormalities concentrated on middle and anterior of face in patients with sleep apnea.

Dec 2023

DOI: 10.1016/j.sleep.2023.09.025 PMID: 37801860

The aim of this study is to propose a deep learning-based model using craniofacial photographs for automatic obstructive sleep apnea (OSA) detection and to perform design explainability tests to inves... Five hundred and thirty participants with suspected OSA are subjected to polysomnography. Front and profile craniofacial photographs are captured and randomly segregated into training, validation, and... The model using craniofacial photographs alone yields an accuracy of 0.884 and an area under the receiver operating characteristic curve of 0.881 (95% confidence interval, 0.839-0.922). Using the cuto... The results suggest that the deep learning-based model can extract meaningful features that are primarily concentrated in the middle and anterior regions of the face....

Humans Deep Learning Reproducibility of Results Sleep Apnea Syndromes Sleep Apnea, Obstructive +2 autres

Critical elements in tissue engineering of craniofacial malformations.

06 2023

DOI: 10.2217/rme-2022-0128 PMID: 37199189

Abnormal craniofacial bone fusion can lead to the generation of several congenital malformations such as cleft palate, craniosynostosis and craniofacial skeletal hypoplasia, which physically and menta...

Humans Tissue Engineering Cleft Palate Craniofacial Abnormalities Osteogenesis +1 autres

Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders.

25 Jun 2024

DOI: 10.1186/s11689-024-09547-8 PMID: 38918700

Minor physical anomalies (MPAs) are congenital morphological abnormalities linked to disruptions of fetal development. MPAs are common in 22q11.2 deletion syndrome (22q11DS) and psychosis spectrum dis... Here, 2D digital photographs were collected from 22q11DS (n = 150), PS (n = 55), and typically developing (TD; n = 93) individuals. Photographs were analyzed using two computer-vision techniques: (1) ... F2G reliably identified patients with 22q11DS; faces of PS patients were matched to several genetic conditions including FragileX and 22q11DS. PCA-derived factor loadings of all F2G scores indicated u... The extent to which craniofacial dysmorphology 22q11DS and PS overlapping and evident before the impairment or distress of sub-psychotic symptoms may allow us to identify at-risk youths more reliably ...

Humans DiGeorge Syndrome Psychotic Disorders Female Male +7 autres

Perception of aesthetic features after surgical treatment of craniofacial malformations by observers of the same age: An eye-tracking study.

Nov 2023

DOI: 10.1016/j.jcms.2023.09.009 PMID: 37813772

The aim of this study is to evaluate where exactly children and adolescents of the same group look when they interact with each other, and attempt to record and analyse the data recorded by eye-tracki... 60 subjects participated in the study, evenly divided into three age categories of 20 each in pre-school/primary school age (5-9 years), early adolescence (10-14 years) and late adolescence/transition... Across all groups, there was no significant difference for the individual regions for the parameters of initial attention (area of first view), while the time until first fixation of one of the AOIs (... There are significant differences in both male and female participants' viewing of faces with and without secondary cleft deformity. While in the age group of the younger test persons it was still the...

Adolescent Child Child, Preschool Female Humans +8 autres

Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis.

20 Jun 2023

DOI: 10.3390/ijms241210412 PMID: 37373559

Osteopetrosis is a group of genetic bone disorders characterized by increased bone density and defective bone resorption. Osteopetrosis presents a series of clinical manifestations, including craniofa...

Humans Osteopetrosis Bone and Bones Phenotype Bone Resorption +3 autres

Measurement of Upper Airway Volume in Children with Craniofacial Abnormalities.

28 Nov 2023

DOI: 10.1002/lary.31203 PMID: 38014817

Previous literature has established a high prevalence of upper airway obstruction in children with craniofacial abnormalities. This study aims to perform quantitative airway volume measurements in pat... We performed a retrospective review of the records of all children with craniofacial abnormalities who underwent head-and-neck computed tomography (CT) imaging at a single tertiary-care center between... Thirty subjects with craniofacial syndromes were matched to 30 patients with isolated craniosynostosis (controls). In both groups, 18 subjects (60%) were male (p = 0.99). The average ages for syndromi... We present a unique technique to measure airway volumes in patients with craniofacial abnormalities. These findings will help practitioners to further understand the anatomy and pathophysiology of dis... III Laryngoscope, 2023....

Exploring the roles of noncoding RNAs in craniofacial abnormalities: A systematic review.

Jan 2024

DOI: 10.1016/j.ydbio.2023.10.007 PMID: 37923186

Congenital craniofacial abnormalities are congenital anomalies of variable expressivity and severity with a recognizable set of abnormalities, which are derived from five identifiable primordial struc...

Postoperative Upper Airway Volume Measurements Among Children With Craniofacial Abnormalities.

12 Apr 2024

DOI: 10.1002/ohn.773 PMID: 38613193

To measure postoperative airway volumes among patients with craniofacial abnormalities and compare them to normative values.... Retrospective, comparative study.... Academic Medical Center.... Retrospective analysis of imaging of children with craniofacial abnormalities treated at NYU Langone Health from January 2013 to February 2021. Upper airway volumes postcraniofacial surgery were measu... Twenty-one subjects were identified and compared to normative values. The postoperative oropharyngeal volumes were on average 43.7% smaller than the normative values (P < .001), and the total upper ai... In children with craniofacial anomalies, postoperative airway volumes remain lower than normative values. However, even a slight increase in airway volume can yield a substantial increase in flow rate...

Malformations crâniofaciales : Questions médicales fréquentes

Questions fréquentes et termes MeSH associés

Diagnostic 5

Symptômes 5

Prévention 5

Traitements 5

Complications 5

Facteurs de risque 5

Contenu validé par Dr Olivier Menir

Sous-catégories

Dysostose cleido-crânienne héréditaire

Dysostose craniofaciale

Plagiocéphalie

Platybasie

Syndrome d'Hallermann-Streiff-François

Hypertélorisme

Dysostose mandibulofaciale

Plagiocéphalie positionnelle

Syndrome de Goldenhar

Auteurs principaux

Sources (3544 au total)