Title :

Surgical management of craniomaxillofacial features in the otopalatodigital spectrum disorders

Author(s) :

Roland-Billecart, Thomas [Auteur]
Schlund, Matthias [Auteur]
Advanced Drug Delivery Systems (ADDS) - U1008
Lauwers, Ludovic [Auteur]
Nicot, Romain [Auteur]
Advanced Drug Delivery Systems (ADDS) - U1008
Ferri, Joel [Auteur]
Advanced Drug Delivery Systems (ADDS) - U1008

Journal title :

The Journal of craniofacial surgery

Abbreviated title :

J Craniofac Surg

Publication date :

2021-06-28

ISSN :

1536-3732

Keyword(s) :

Melnick-Needles syndrome
orthognathic surgery
otopalatodigital syndrome spectrum disorders
frontometaphyseal dysplasia
dental rehabilitation
Cranioplasty
FLNA gene

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Otopalatodigital syndrome spectrum disorders are caused by Filamin A (FLNA) gene mutations. Otopalatodigital syndrome spectrum disorders are a group of rare congenital skeletal dysplasia, with specific craniomaxillofacial ...
Show more >Otopalatodigital syndrome spectrum disorders are caused by Filamin A (FLNA) gene mutations. Otopalatodigital syndrome spectrum disorders are a group of rare congenital skeletal dysplasia, with specific craniomaxillofacial features including otopalatodigital syndrome type 1 and type 2, Melnick-Needles syndrome, frontometaphyseal dysplasia, terminal osseous dysplasia with pigmentary defects. The authors describe cases of a young girl with Melnick-Needles syndrome and a young boy with frontometaphyseal dysplasia treated in the Oral and Maxillofacial Surgery Department. Both patients had FLNA gene mutation confirmed with molecular genetic analysis. The authors proposed a 4 step treatment of the malformations with good outcomes both aesthetically and functionally, without complication.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CHU Lille
Inserm
Université de Lille

Collections :

• Advanced Drug Delivery Systems (ADDS) - U1008

Research team(s) :

U1008

Submission date :

2022-04-13T07:12:15Z