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Article Dans Une Revue The Journal of craniofacial surgery Année : 2021

Surgical management of craniomaxillofacial features in the otopalatodigital spectrum disorders

Résumé

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.
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Dates et versions

hal-04459195 , version 1 (15-02-2024)

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Thomas Roland-Billecart, Matthias Schlund, Ludovic Lauwers, Romain Nicot, Joel Ferri. Surgical management of craniomaxillofacial features in the otopalatodigital spectrum disorders. The Journal of craniofacial surgery, 2021, The Journal of craniofacial surgery, 32 (8), pp.2823-2826. ⟨10.1097/SCS.0000000000007707⟩. ⟨hal-04459195⟩

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