Dental and maxillofacial signs in aarskog ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
Dental and maxillofacial signs in aarskog syndrome: a review of 3 siblings and the literature
Auteur(s) :
Depeyre, Arnaud [Auteur]
Centre de Recherche en Odontologie Clinique [CROC]
Advanced Drug Delivery Systems (ADDS) - U1008
Schlund, Matthias [Auteur]
Advanced Drug Delivery Systems (ADDS) - U1008
Gryseleyn, Remi [Auteur]
Université de Lille
Ferri, Joel [Auteur]
Advanced Drug Delivery Systems (ADDS) - U1008
Médicaments et biomatériaux à libération contrôlée: mécanismes et optimisation - Advanced Drug Delivery Systems - U 1008 [MBLC - ADDS]
Centre de Recherche en Odontologie Clinique [CROC]
Advanced Drug Delivery Systems (ADDS) - U1008
Schlund, Matthias [Auteur]
Advanced Drug Delivery Systems (ADDS) - U1008
Gryseleyn, Remi [Auteur]
Université de Lille
Ferri, Joel [Auteur]
Advanced Drug Delivery Systems (ADDS) - U1008
Médicaments et biomatériaux à libération contrôlée: mécanismes et optimisation - Advanced Drug Delivery Systems - U 1008 [MBLC - ADDS]
Titre de la revue :
Journal of Oral and Maxillofacial Surgery
Nom court de la revue :
J. Oral Maxillofac. Surg.
Numéro :
76
Pagination :
2202-2208
Date de publication :
2018-03-29
ISSN :
1531-5053
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic ...
Lire la suite >Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported by genetic examination. This report describes 3 brothers already diagnosed with ASS who were referred for examination of oral and maxillofacial malformations associated with ASS. They presented classic features of ASS, such as digital and genital (shawl scrotum) anomalies. More specifically, in terms of orbitopalpebral malformations, they showed marked ptosis with hypertelorism and antimongoloid palpebral fissure that gave them the characteristic facies. Concerning their oral and maxillofacial malformations, they had dental and skeletal major discrepancies and some dental agenesia. ASS is a rare X-linked syndrome composed of numerous morphologic facial, digital, and genital anomalies. The diagnosis is established genetically with the FGD1 mutation but there is no phenotypic and genotypic correlation with FGD1 mutations. Concerning maxillofacial malformations, maxillary and mandibular hypoplasia with jaw discrepancies can be found, as can teeth anomalies. It seems that these anomalies are widely underestimated.Lire moins >
Lire la suite >Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported by genetic examination. This report describes 3 brothers already diagnosed with ASS who were referred for examination of oral and maxillofacial malformations associated with ASS. They presented classic features of ASS, such as digital and genital (shawl scrotum) anomalies. More specifically, in terms of orbitopalpebral malformations, they showed marked ptosis with hypertelorism and antimongoloid palpebral fissure that gave them the characteristic facies. Concerning their oral and maxillofacial malformations, they had dental and skeletal major discrepancies and some dental agenesia. ASS is a rare X-linked syndrome composed of numerous morphologic facial, digital, and genital anomalies. The diagnosis is established genetically with the FGD1 mutation but there is no phenotypic and genotypic correlation with FGD1 mutations. Concerning maxillofacial malformations, maxillary and mandibular hypoplasia with jaw discrepancies can be found, as can teeth anomalies. It seems that these anomalies are widely underestimated.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
CHU Lille
Inserm
Université de Lille
Inserm
Université de Lille
Collections :
Date de dépôt :
2021-01-20T15:59:01Z
2024-02-23T09:57:07Z
2024-02-23T09:57:07Z