The evaluation of a child suspected to have<unk>  is preferentially performed in a craniofacial center. The three main elements of analysis include medical history, physical examination and radiographic analysis. Medical history should in any case include questions about risk factors during pregnancy, the familial rate and the presence of symptoms of elevated intracranial pressure (ICP). Elevated ICP * Symptoms of increased intracranial pressure – such as headache and vomiting – should be questioned after. An elevation of ICP can be present in 4 to 20% of the children where only a single suture is affected. The incidence of ICP in children with more than one suture involved can be as high as 62%. However, even though the children are affected, symptoms are not always present. Physical examination Fundoscopy should always be performed in children with<unk> . It is used to find papilledema which is sometimes the only symptom of elevated intracranial pressure shown in these children. Other parts of the physical examination include the measurement of the head circumference, the assessment of the skull deformity and the search for deformities affecting other parts of the body. The head circumference and the growth curve of the head provide important clues into making a differentiation between<unk> , primary microcephaly and hydrocephalus. This differentiation has an important influence on the further treatment of the child. In a recent article Cunningham et al. described several steps in which a pediatrician should observe the patient to assess skull deformity: * The first is looking with a bird's eye view at the patient while the patient preferably faces the parent while sitting on the parent’s lap. The goal is to assess the shape of the forehead, the skull length, the width of the skull, position of the ears and the symmetry of the frontal bones and occiput. * The second is looking at the patient from behind while preferably the child is in the same position as described above. It is important to look at the skull base (to determine whether it is level or not), the position of the ears and to the mastoid (to spot the possible presence of a bulge). * The third point of view is the frontal view. The points to look at are: eye position, eye symmetry and twisting of the nasal tip. The implications of the deformities that are seen are extensively discussed under 'phenotype'. Syndromal<unk>  presents with a skull deformity as well as deformities affecting other parts of the body. Clinical examination should in any case include evaluation of the neck, spine, digits and toes. Medical imaging Radiographic analysis by performing a computed axial tomographic scan is the gold standard for diagnosing<unk> . Plain radiography of the skull may be sufficient for diagnosing a single suture<unk>  and should therefore be performed, but the diagnostic value is outweighed by that of the CT-scan. Not only can the sutures be identified more accurately, thus objectively demonstrating a fused suture, but also evaluation of the brain for structural abnormalities and excluding other causes of asymmetric growth are possible at the same time. In addition to this, CT-scanning can visualize the extent of skull deformity, thereby enabling the surgeon to start planning surgical reconstruction. Classification There are several ways to classify<unk> . * For example, one can consider the number of closed sutures. If only one of the four sutures is prematurely closed (single suture<unk> , the<unk>  is referred to as 'simple' (or 'isolated'). Whereas when two or more sutures are no longer open, the<unk>  is 'complex'. * A second classification scheme gives a clinical description of the resulting shape of the skull. This will be further discussed under phenotype. * A third classification involves the presence or absence of an identified craniofacial syndrome.<unk>  where no extracranial deformations are present, is called non-syndromic or 'isolated'<unk> . When there are extracranial deformations present, for instance involving the limbs, heart, central nervous system or the respiratory tract, you may speak of a syndromic form of<unk> . More than 180 identified syndromes show deformations due to<unk> . The following syndromes are associated with fibroblast growth factor receptors: Name of syndrome Other signs and symptoms (along with<unk> ; may not all be present) OMIM reference Gene Crouzon syndrome wide-set, bulging eyes • beaked nose • flat face FGFR2, FGFR3 Apert syndrome fused fingers or toes • flat midface FGFR2 Crouzonodermoskeletal syndrome wide-set, bulging eyes • beaked nose • flat face • dark, velvety skin folds • spine abnormalities • benign growths in the jaw FGFR3 Jackson–Weiss syndrome enlarged, bent big toes • flat midface FGFR1, FGFR2 Muenke syndrome coronal synostosis • skeletal abnormalities of the hands or feet • hearing loss FGFR3 Pfeiffer syndrome broad, short thumbs or big toes • webbed or fused fingers or toes FGFR1, FGFR2 In addition, the following syndromes have been identified: Name of syndrome Other signs and symptoms (along with<unk> ; may not all be present) OMIM reference Gene Loeys–Dietz syndrome wide-set eyes • split uvula or cleft palate • arterial tortuosity • aortic root dilatation • aneurysms TGFBR1, TGFBR2, SMAD3 Saethre–Chotzen syndrome facial asymmetry • low frontal hairline • drooping eyelids • webbed fingers or toes • broad big toes TWIST1 Shprintzen–Goldberg syndrome bulging eyes • flat face • hernias • long, thin fingers • developmental delay • mental retardation FBN1 Differential diagnosis Deformational plagiocephaly The main difference between plagiocephaly based on<unk>  and deformational plagiocephaly is that there is no suture fusion in the latter one. The malleability of the neonatal skull allows the skull to change shape due to extrinsic forces. With the tests a pediatrician should perform, as explained above, the difference is quite easy to make. In deformational plagiocephaly the skull does not show a bulging of the mastoid and in these patients the skull base and position of the ears is level, all in contrary with plagiocephaly due to<unk> . Displacement of one ear to the front is characteristic for deformational plagiocephaly. Primary microcephaly Primary microcephaly shows a clinical image of<unk> , but due to a different cause. The primary failure is the absence of growth of the brain, rendering the sutures of the cranial vault useless. As a consequence, the sutures close, presenting a pansynostosis like image. A differentiation between these two conditions can be made with a computed tomography (CT) scan. The subarachnoid spaces are typically enlarged with primary microcephaly, whereas they are reduced or absent in true pansynostosis.
Craniosynostosis
Buccal exostosis
Melorheostosis
Achondroplasia
Pachydermoperiostosis
Cleidocranial dysostosis
Hyperostosis frontalis interna
Sialocele