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

• 主要な著者: Fabio Sirchia (著者), Ilaria Fantasia (著者), Agnese Feresin (著者), Elisa Giorgio (著者), Flavio Faletra (著者), Denise Mordeglia (著者), Moira Barbieri (著者), Valentina Guida (著者), Alessandro De Luca (著者), Tamara Stampalija (著者)
• フォーマット: 図書
• 出版事項: BMC, 2021-03-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract 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 propos...