Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis

BACKGROUND: Cerebro-oculo-facio-skeletal syndrome (COFS) is a severe and progressive neurologic condition characterized by prenatal onset of arthrogryposis, cataract, microcephaly and growth failure. The aim of this study was to present a case of recurrence of the COFS syndrome and to propose a diff...

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Detalles Bibliográficos
Autores principales: Sirchia, Fabio, Fantasia, Ilaria, Feresin, Agnese, Giorgio, Elisa, Faletra, Flavio, Mordeglia, Denise, Barbieri, Moira, Guida, Valentina, De Luca, Alessandro, Stampalija, Tamara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7992958/
https://www.ncbi.nlm.nih.gov/pubmed/33766032
http://dx.doi.org/10.1186/s12920-021-00939-6

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