Article
Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.
The Journal of craniofacial surgery - 1 Jan 2000
Roland-Billecart Thomas, Schlund Matthias, Lauwers Ludovic, Nicot Romain, Ferri Joel
Abstract excerpt
ABSTRACT: 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...
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