E-resources
Peer reviewed
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Quélin, Chloé; Loget, Philippe; D'Hervé, Dominique; Fradin, Mélanie; Milon, Joëlle; Ferry, Mathilde; Body-Bechou, Delphine; Tréguier, Catherine; Garcia Hoyos, Maria; Odent, Sylvie
Prenatal diagnosis, February 2015, Volume: 35, Issue: 2Journal Article
What's already known about this topic? Osteopathia striata with cranial sclerosis (OSCS) is an X‐linked dominant disorder combining hyperostosis of the skull and metaphyseal striations in females and a more severe phenotype in males with fetal malformations and risk of death in early childhood. What does this study add? This case emphasizes that OSCS must be considered in fetuses with abnormalities such as macrocephaly, bony sclerosis and fibular hypoplasia, particularly if the mother is macrocephalic.
