Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography

Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography

Author Helfer, Talita Micheletti Autor UNIFESP Google Scholar
Peixoto, Alberto Borges Autor UNIFESP Google Scholar
Tonni, Gabriele Google Scholar
Araujo Junior, Edward Autor UNIFESP Google Scholar
Abstract Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. According to suture commitment, craniosynostosis may affect a single suture or multiple sutures. There is a wide range of syndromes involving craniosynostosis and the most common are Apert, Pffeifer, Crouzon, Shaethre-Chotzen and Muenke syndromes. The underlying etiology of nonsyndromic craniosynostosis is unknown. Mutations in the fibroblast growth factor (FGF) signalling pathway play a crucial role in the etiology of craniosynostosis syndromes. Prenatal ultrasound's detection rate of craniosynostosis is low. Nowadays, different methods can be applied for prenatal diagnosis of craniosynostosis, such as two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), computed tomography (CT) scan and, finally, molecular diagnosis. The presence of craniosynostosis may affect the birthing process. Fetuses with craniosynostosis also have higher rates of perinatal complications. In order to avoid the risks of untreated craniosynostosis, children are usually treated surgically soon after postnatal diagnosis.
Keywords craniosynostosis
Apert Syndrome
Pfeiffer Syndrome
Crouzon Syndrome
prenatal diagnosis
Language English
Date 2016
Published in Medical Ultrasonography. Cluj-Napoca, v. 18, n. 3, p. 378-385, 2016.
ISSN 1844-4172 (Sherpa/Romeo, impact factor)
Publisher Soc Romana Ultrasonografe Medicina Biologie-Srumb
Extent 378-385
Access rights Open access Open Access
Type Revisão
Web of Science ID WOS:000383506400017

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