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Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
Childs Nerv Syst. 2012 Sep;28(9):1447-63. doi: 10.1007/s00381-012-1756-2. Epub 2012 Aug 8.
Childs Nerv Syst. 2012.
PMID: 22872262
Free PMC article.
Review.
A literature review was also performed with regard to the genetic workup and diagnosis of patients with craniosynostosis. RESULTS: Patients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of …
A literature review was also performed with regard to the genetic workup and diagnosis of patients with craniosynostosis. RESULTS: Pa …
Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes.
Rubio EI, Blask A, Bulas DI.
Rubio EI, et al.
Pediatr Radiol. 2016 May;46(5):709-18. doi: 10.1007/s00247-016-3550-x. Epub 2016 Feb 25.
Pediatr Radiol. 2016.
PMID: 26914936
BACKGROUND: Craniosynostosis syndromes are uncommonly encountered in the prenatal period. ...Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. RESULTS: The diagnosis was Apert syndrome in three, Pf …
BACKGROUND: Craniosynostosis syndromes are uncommonly encountered in the prenatal period. ...Abnormalities of the calvarium, hands, f …
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