Article
The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.
Genes - 6 Aug 2021
Dahan-Oliel Noémi, Dieterich Klaus, Rauch Frank, Bardai Ghalib, Blondell Taylor N, Gustafson Anxhela Gjyshi, Hamdy Reggie, Latypova Xenia, Shazand Kamran, Giampietro Philip F, van Bosse Harold
Abstract excerpt
BACKGROUND: Multiple pterygium syndrome (MPS) is a genetically heterogeneous rare form of arthrogryposis multiplex congenita characterized by joint contractures and webbing or pterygia, as well as distinctive facial features related to diminished fetal movement. It is divided into prenatally lethal (LMPS, MIM253290) and nonlethal (Escobar variant MPS, MIM 265000) types. Developmental spine deformities are common,...
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