Diagnostic imaging in the management of craniosynostoses

Abstract

Craniosynostoses are the most frequent craniofacial malformations. However, with a prevalence of 3-6 cases per 10,000 live births they are amongst the rarely seen diseases and their definite diagnosis thus poses a challenge to the physician. When an abnormal calvarial configuration is detected, a radiological evaluation is necessary to characterize the deformity and to guide the corrective surgical procedure. The demand for clear diagnostic criteria is justified by the severity of the disease and the possible consequences of delayed diagnosis. In addition to the clinical signs (deformation of the head), conventional skull X-rays show typical radiological alterations and are used for basic diagnostics. Diagnostic tests that may be performed to confirm the diagnosis and assess the extent of the problem, include computed tomography (CT), 3D-CT, magnetic resonance imaging (MRI) scans, and ultrasonography. In the present review we will describe the most important clinical and radiological characteristics of craniosynostosis by means of clinical, radiological and operative situs examples.

Cranial Ultrasound as a First-Line Imaging Examination for Craniosynostosis

“…[1][2][3] Craniosynostosis can present as an isolated finding or in association with various syndromes. Although an isolated single cranial suture closure usually causes only cosmetic deformity, 1 poor gross motor function and learning difficulties resulting from even a single suture synostosis have been reported.…”

“…CT with 3-dimensional reconstruction delineates the diagnosis and guides preoperative management. 2,9,12,14 Cranial ultrasound (CUS) is an alternative imaging modality that is underused in this context. It offers excellent imaging of superficial structures with the potential to confirm or exclude fusion of cranial sutures while avoiding exposure to ionizing radiation in the very young infant.…”

Three-dimensional CT imaging in pediatric calvarial pathologies

“…Craniosynostosis Premature fusion of the sutures is commonly isolated and sporadic (nonsyndromic). Craniosynostosis may be associated with some syndromes, including Crouzon, Apert, Pfeiffer, and Carpenter syndromes (1,11).…”

“…8). A radiologist should distinguish posterior plagiocephaly, which requires surgery, from positional plagiocephaly, which can be treated conservatively (10,11). Some important indicators of plagiocephaly include the following: 1) Lambdoid suture synostosis; 3D VR images are useful for rapid assessment of premature fusion.…”

“…The transverse diameter of the skull is widened. Superior displacement of the lesser wing of the sphenoid bone causes the characteristic "harlequin eye" (1,11). Brachycephaly is frequently seen with syndromic synostosis (e.g., Apert, Crouzon, Pfeiffer, craniofrontonasal syndromes) (Fig.…”