title: Craniosynostosis with wormian bone, bowing of the long bones, unilateral short femur, and focal fibula deficiency: a prenatal diagnostic dilemma.
abstract: The prenatal detection in the second trimester of pregnancy of a fetus with craniosynostosis, wide metopic suture, and wormian bone associated with bowing of the long bones, unilateral short femur, and focal fibula deficiency is reported. These ultrasonographic findings when not supported by a diagnostic molecular biology result represent a prenatal dilemma in term of both parent's counseling and management of potential overlapping skeletal diseases.
authors.affiliation: Maternal-Fetal Medicine, Prenatal Diagnostic Service, Guastalla General Hospital, Via Donatori Sangue, 1, 42016 Guastalla, AUSL Reggio Emilia, Italy.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Tonni
authors.forename: Mario
authors.initials: M
authors.lastname: Lituania
authors.forename: Lucia
authors.initials: L
authors.lastname: Rosignoli
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000025:Abortion, Eugenic; D003398:Craniosynostoses / Q000000981:diagnostic imaging*; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005360:Fibula / Q000002:abnormalities* / Q000000981:diagnostic imaging; D056305:Genu Varum / Q000000981:diagnostic imaging*; D006801:Humans; D021621:Imaging, Three-Dimensional; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal
keywords: craniosynostosis; focal fibula deficiency; molecular biology analysis; prenatal ultrasound diagnosis; wormian bone