Auricles Anomalies in Patients With a TCF12 ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
Auricles Anomalies in Patients With a TCF12 Gene Mutation.
Auteur(s) :
Lacroix, Guillaume [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Karnoub, Melodie-Anne [Auteur]
Protéomique, Réponse Inflammatoire, Spectrométrie de Masse (PRISM) - U 1192 [PRISM]
Vinchon, Matthieu [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Wolber, Alexis [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Duquennoy- Martinot, Veronique [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Guerreschi, Pierre [Auteur]
Advanced Drug Delivery Systems (ADDS) - U1008
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Karnoub, Melodie-Anne [Auteur]
Protéomique, Réponse Inflammatoire, Spectrométrie de Masse (PRISM) - U 1192 [PRISM]
Vinchon, Matthieu [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Wolber, Alexis [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Duquennoy- Martinot, Veronique [Auteur]
Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Guerreschi, Pierre [Auteur]
Advanced Drug Delivery Systems (ADDS) - U1008
Titre de la revue :
Journal of Craniofacial Surgery
Nom court de la revue :
J Craniofac Surg
Numéro :
34
Pagination :
302-305
Éditeur :
Lippincott, Williams & Wilkins
Date de publication :
2022-08-24
ISSN :
1536-3732
Mot(s)-clé(s) :
\"Saethre-Chotzen like\"
auricle
TCF12
craniostenosis
auricle
TCF12
craniostenosis
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
Craniostenosis is a morphological anomaly affecting about 0.5 of 1000 births and one third of the cases are of genetic origin. Among the syndromes responsible for craniostenosis, there is the Saethre-Chotzen syndrome due ...
Lire la suite >Craniostenosis is a morphological anomaly affecting about 0.5 of 1000 births and one third of the cases are of genetic origin. Among the syndromes responsible for craniostenosis, there is the Saethre-Chotzen syndrome due to a mutation of the TWIST 1 gene located on chromosome 7. This polymalformative syndrome classically includes a particular morphology of the auricles. The penetrance is variable and results in a phenotypic variability at the origin of “Saethre-Chotzen like” clinical pictures for which the TWIST 1 gene mutation is sometimes not found. Recently, the TCF 12 gene has been implicated in some of these cases. Among the multiple facial malformations, we have carefully examined the particular morphology of the auricle of these patients. The authors found several abnormalities in patients with a TCF 12 gene mutation, namely a thickened and hammered upper pole of the helix, a narrow concha without crux cymbae and a thickened lobe. These morphological features may guide the diagnosis and allow an earlier search for a TCF 12 gene mutation.Lire moins >
Lire la suite >Craniostenosis is a morphological anomaly affecting about 0.5 of 1000 births and one third of the cases are of genetic origin. Among the syndromes responsible for craniostenosis, there is the Saethre-Chotzen syndrome due to a mutation of the TWIST 1 gene located on chromosome 7. This polymalformative syndrome classically includes a particular morphology of the auricles. The penetrance is variable and results in a phenotypic variability at the origin of “Saethre-Chotzen like” clinical pictures for which the TWIST 1 gene mutation is sometimes not found. Recently, the TCF 12 gene has been implicated in some of these cases. Among the multiple facial malformations, we have carefully examined the particular morphology of the auricle of these patients. The authors found several abnormalities in patients with a TCF 12 gene mutation, namely a thickened and hammered upper pole of the helix, a narrow concha without crux cymbae and a thickened lobe. These morphological features may guide the diagnosis and allow an earlier search for a TCF 12 gene mutation.Lire moins >
Langue :
Anglais
Audience :
Internationale
Établissement(s) :
Université de Lille
Inserm
CHU Lille
Inserm
CHU Lille
Collections :
Date de dépôt :
2023-05-08T14:32:39Z
2023-05-17T08:05:36Z
2023-05-17T08:05:36Z