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Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology
Author(s) -
Quélin Chloé,
Loget Philippe,
D'Hervé Dominique,
Fradin Mélanie,
Milon Joëlle,
Ferry Mathilde,
BodyBechou Delphine,
Tréguier Catherine,
Garcia Hoyos Maria,
Odent Sylvie
Publication year - 2015
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4502
Subject(s) - macrocephaly , medicine , skull , anatomy , pathology , fetus , hyperostosis , hypoplasia , occipital bone , pregnancy , biology , genetics
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.