Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_4533_Библиотеки_им_академика_М_И_Перельмана

The diagnosis of a typical craniosynostosis is usu­ally clinical by inspection and palpation of fonta­nels and sutures, and it is commonly diagnosed in the rst year of life (Fig.20.2). In uncertain cases, ultrasound investigations will bring additional information. The clinical assessment determines the following: (a) whether a craniosynostosis is present, (b) which and how many sutures are involved, and (c) whether there are signs suggest­ing an associated syndrome. Initially, a careful medical history also of parents should be obtained. Systematic evaluation includes primary pheno­typical evaluation and may be added by imaging, clinical, and laboratory tests. The clinical exami­nation is at this stage the most important part. The clinical investigation should focus on the search of typical signs of syndromes, especially possible congenital anomalies (e.g., a broad, radially devi­ated thumb in Pfeiffer syndrome or syndactyly in Apert syndrome), dysmorphic features of the face (hyper- or hypotelorism, hypoplasia of the mid­face, asymmetry, the position, shape, and size of the ears), or alterations of a normal skull shape. Measurement of the head circumference for cal­culating the cephalic index (the ratio of maximum breadth to maximum length of the skull) is a reli­able method to get insight into skull deformities. Any sutural ridging, prominent blood vessels on the scalp, and the size, shape, and tension of the fontanels should also be assessed. Morphological evaluation of the skull should be performed for overall shape and size and palpation of the ante­rior and posterior fontanels (Fig.20.2) with atten­tion to size, shape, and fullness with the infant in both the upright and supine positions. In addition to looking at the infant from the front and sides, it is important to observe the skull shape from above, particularly to note any asymmetries in ear position and any attening of the skull posteriorly, as well as from behind so the levelness of the skull base can be assessed. Deformational plagioceph­aly (positional deformation) is the most common differential diagnosis and may confuse the inves­tigator. Positional deformation is different from craniosynostosis in that the parallel quadrangular

Clinically important malformations also concern the orbits in cases of multisuture synostosis or pansynostosis resulting from a shortening of the anterior skull base due to premature fusion of the basal sutures [31–35]. In consequence, orbital vol­ume is reduced uni- or bilaterally, as well the angle between midline and orbital axis widens. This causes typical symptoms such as exophthalmos (Fig.20.10) and hypertelorism. It is important to understand that bulging bulbs are not only an aes­thetical problem. Depending on the mismatch between the bony orbit and orbital viscerae, clos­ing of the lids becomes incomplete. This situation threatens the cornea. In extreme cases luxation of the ocular bulbs is possible compromising the optic nerve by traction (Fig. 20.11). Beside the orbital roof, the orbital oor is mostly shortened as well. The disease inherent midface hypoplasia worsens the problem. In this way, orbital hypopla­sia is a demanding threat with imminent hazards for visual function up to amaurosis. The most common syndromes for this are Crouzon syn­drome, Pfeiffer syndrome, and Apert syndrome (FGFR2 syndromes). Neurosurgical investigation in this pattern has to include, in cooperation with the maxillofacial surgeon, high-resolution CAT scan of the cranium, orbits, and midface for exact pre- surgery design of fronto-orbito-nasal advance­ment with decompression of the orbits [36–38].