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A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis

We report a case of Cornelia de Lange syndrome (CdLS) where prenatal diagnosis was not made even with major anomaly. A 33-year-old Japanese woman was referred to our institution at 23 weeks of gestation because of fetal forearm defect. Ultrasound examination revealed short forearms and short humeri...

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Detalles Bibliográficos
Autores principales: Kinjo, Tadatsugu, Mekaru, Keiko, Nakada, Miyuki, Nitta, Hayase, Masamoto, Hitoshi, Aoki, Yoichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6535877/
https://www.ncbi.nlm.nih.gov/pubmed/31214369
http://dx.doi.org/10.1155/2019/4530491