Ontology highlight
ABSTRACT:
SUBMITTER: Rodolico C
PROVIDER: S-EPMC7427329 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Rodolico Carmelo C Politano Luisa L Portaro Simona S Murru Stefania S Boccone Loredana L Sera Francesco F Passamano Luigia L Brizzi Teresa T Tupler Rossella R
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 20200522
Among 1339 unrelated cases accrued by the Italian National Registry for facioscapulohumeral muscular dystrophy (FSHD), we found three unrelated cases who presented signs of Williams-Beuren Syndrome (WBS) in early childhood and later developed FSHD. All three cases carry the molecular defects associated with the two disorders. The rarity of WBS and FSHD, 1 in 7500 and 1 in 20,000 respectively, makes a random association of the two diseases unlikely. These cases open novel and unexpected interpret ...[more]