Diagnosis of infant synostotic and nonsynostotic cranial deformities: a review for pediatricians

Abstract

Objective: To review the current comprehensive care for nonsyndromic craniosynostosis and nonsynostotic cranial deformity and to offer an overall view of these craniofacial conditions.

Data source: The review was conducted in the PubMed, SciELO, and LILACS databases without time or language restrictions. Relevant articles were selected for the review.

Data synthesis: We included the anatomy and physiology of normal skull development of children, discussing nuances related to nomenclature, epidemiology, etiology, and treatment of the most common forms of nonsyndromic craniosynostosis. The clinical criteria for the differential diagnosis between positional deformities and nonsyndromic craniosynostosis were also discussed, giving to the pediatrician subsidies for a quick and safe clinical diagnosis. If positional deformity is accurately diagnosed, it can be treated successfully with behavior modification. Diagnostic doubts and craniosynostosis patients should be referred straightaway to a multidisciplinary craniofacial center.

Conclusions: Pediatricians are in the forefront of the diagnosis of patients with cranial deformities. Thus, it is of paramount importance that they recognize subtle cranial deformities as it may be related to premature fusion of cranial sutures.

Keywords: Anormalidades craniofaciais; Craniofacial abnormalities; Craniossinostose; Craniosynostosis; Diagnosis; Diagnóstico; Pediatras; Pediatricians.

Figure 1. (A, Left) Frontal photograph of patient with premature fusion of sagittal suture showing the characteristic temporal pinching. (Right) Lateral photograph reveling increase in the anterior-posterior diameter of the skull (long narrow skull), the frontal bossing and occipital bulging (occipital bullet), which are the main clinical characteristics of sagittal craniosynostosis. (B, Left) Frontal photograph of patient with premature fusion of the right coronal suture showing the retrusion of the ipsilateral frontal bone fusion and compensatory contralateral bulging, asymmetry of the eyebrows, orbits, ears, nose, jaw, as well as convergent strabismus of the left eye. (Right) 3D CT reconstruction showing the premature fusion of the right coronal suture and the elevation of the ipsilateral sphenoid wing leading to an elongate orbit, recognized as the “harlequin orbit”. (C, Left) Frontal photograph of patient with premature fusion of metopic suture showing the triangular aspect of the forehead with retruded crests of the orbits bilaterally and hypoteleorbitism (approximation of orbits). (Right) Basal view revealing the triangular appearance of the skull. (D) Lateral photograph of patient with premature fusion of lambdoid suture showing the turricephalic aspect of the skull. Two-dimensional photographs and radiological documentations belong to SOBRAPAR Hospital's archives. Informed consent forms were signed by the patient's parents.

Figure 2. Representation of positional plagiocephaly and true (synostotic) posterior plagiocephaly. (A) Positional plagiocephaly showing: absence of lambdoid suture stenosis, format of a parallelogram skull, ipsilateral compensatory frontal bossing, ipsilateral ear in an anterior position, as if it had been pushed. (B) True posterior plagiocephaly showing: presence of lambdoid suture stenosis, shape of a trapezoid, ipsilateral bulging in the mastoid region, contralateral compensatory frontal bossing, ipsilateral ear stenosis tends to be in a posterior position and downwards, as if the suture pulled it. Credits: Patrick Braga.