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

type 2 and type 3 are associated with mutations in FGFR2. Type 2 occurs sporadically and is characterized by a cloverleaf skull (kleeblattschädel) combined with extreme pro­ptosis, elbow ankylosis or synostosis, nger and toe abnormalities, developmental delay, neurological complications, and early death. Hallmarks of the sporadic type 3 are cranio­synostosis and severe proptosis but without cloverleaf skull with poor prognosis. The inci­dence of all types of Pfeiffer syndrome is approximately 1/100,000 [78].

In the nasal region, a broad or protruding nose can be accompanied by obliteration of the naso­frontal angle with narrow nares, choanal shorten­ing, hypoplastic alar cartilages, and hypoplastic paranasal sinuses.

syndrome, is a mostly sporadic congenital anom­aly affecting primarily aural, ocular, oral, and mandibular development, with vertebral anoma­lies, and epibulbar dermoids [

malities and posterior arch deciencies and to assess asymmetries between the affected and nonaffected sides for maxillofacial treatment planning [95]. Asymmetric mandible hypoplasia, facial clefts, nasal hypoplasia, and asymmetric skull deformities of Goldenhar syndrome can also be assessed by high-resolution multislice CT with multiplanar reconstructions [102]. Low­dose CT can be the imaging key for obstructive sleep apnea in children with Goldenhar syn­drome, which can be caused by nasal hypoplasia, inverted teeth, maxillary clefting, and tonsillar hyperplasia [103]. Computed tomography of the temporal bone structures has proved helpful in imaging external and inner ear abnormalities in one-third of patients, who require complex hear­ing loss therapy [104]. Multidetector CT and CBCT provide exact spatial information about the abnormal variations in the facial skeleton and help to discriminate between the different cranio­facial syndromes [102, 105]. After clinical inspection, MR imaging is the method of choice for the evaluation of common soft tissue disor­ders like preauricular appendages, ear anomalies like microtia, ocular anomalies like unilateral microphthalmia or unilateral anophthalmia, and epibulbar dermoids in Goldenhar syndrome. Diagnostic of multi-organ involvement, e.g., gas­trointestinal, cardiovascular, and genital tract abnormalities, is based on the MRI, whereas CT is the favorite cross-sectional imaging procedure for respiratory tract anomalies [106, 107].

gical corrections. Multidetector row CT has improved the ability to depict detailed bone structures of the midface in extremely short scan time combined with the ability to produce high­quality multiplanar reformations (MPR) and 3D reconstructions based on virtually isotropic images. High-resolution CT scans through the midface are usually acquired in transversal sec­tions and intervals of 3mm or less perpendicular to the hard palate. The thinnest possible slice thickness combined with a bone reconstruction algorithm guarantees the best imaging results for small midface structures. Coronal reformations are easily acquired from high-resolution MDCT scans. If highly resolved CT images of the midface are needed, real coronal scans obtained from sedated children or infants in prone position are the better alternative [48]. Three-dimensional CT reconstructions, e.g., VRT images, can be post- processed with emphasis on different visual impressions. Although not needed for radiologi­cal diagnostics, the resulting 3D images can pro­vide the surgeon with a quick overview of the symmetry of midface structures. Dual-source CT (DSCT) use two X-ray sources and two detectors at the same time. Third-generation DSCT dem­onstrates an optimal compromise between dose and image quality for the imaging of midface structures if performed with 100 kv, tin preltra­tion to constrict the energy spectrum in combina­tion with iterative reconstruction [109]. The effective dose of Sn100 kV/150 mAs (volume CT dose index, 1.22 mGy) for midface structures, especially the parasinus region, is comparable with that of conventional radiography and supe­rior to CBCT with regard to higher image quality at even lower radiation exposure [109].

part of a rare multisystem congenital disorder named generalized lymphatic anomaly, these lym­phatic vascular malformations can involve several organs with poor prognosis [112]. Lymphangiomas are subdivided into three types depending on the size of the lymphatic cavities: capillary or micro­cystic lymphangiomas, cavernous or macrocystic lymphangiomas, and cystic lymphangiomas [110,