Article
Fetal phenotypes in otopalatodigital spectrum disorders.
Clinical genetics - 1 Mar 2016
Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier M P, Delezoide A L, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P
Abstract excerpt
Otopalatodigital spectrum disorders (OPDSD) include OPD syndromes types 1 and type 2 (OPD1, OPD2), Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). These conditions are clinically characterized by variable skeletal dysplasia associated in males, with extra-skeletal features...
Topics
- Craniofacial Abnormalities
- DNA Mutational Analysis
- Female
- Fetus
- Filamins
- Hand Deformities, Congenital
- Humans
- Infant, Newborn
- Male
- Mutation
- Osteochondrodysplasias