Article
Cornelia de Lange Spectrum.
Anales de pediatria - 1 May 2024
Ascaso Ángela, Arnedo María, Puisac Beatriz, Latorre-Pellicer Ana, Del Rincón Julia, Bueno-Lozano Gloria, Pié Juan, Ramos Feliciano J
Abstract excerpt
Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. The clinical presentation is highly variable, but the classic phenotype, characterized by distinctive craniofacial features, pre- and postnatal growth retardation, extremity reduction defects, hirsutism and intellectual disability can be distinguished from the nonclassic phenotype, which is generally...
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