Craniosynostosis is the result of the early fusion of cranial sutures. These sutures exist to facilitate the passage of the baby through the birth canal and later on allow the expansion and growth of the brain. When one or more sutures close prematurely, the structure of the skull becomes altered, growing on the path of least resistance (perpendicularly to the closed suture) and resulting in an atypically shaped skull leading to increased intracranial pressure (ICP) and having an effect on the respiratory and neurologic systems, as well as the development of the child.
The prevalence of craniosynostosis is 1 per 2000 to 1 per 2500 live births. It has risen with time, the predisposing factors being either environmental (maternal smoking, in utero exposure to teratogens, intrauterine constraint, fetal positioning) or genetic (mutations). Almost 20% of all craniosynostoses are due to genetic causes, most of these being inherited in an autosomal dominant fashion, although new mutations arise in 50% of cases. Non-syndromic craniosynostosis occurs in 75% of cases, and 25% account for syndromic craniosynostosis.
The craniosynostoses are classified depending on the suture that is affected, sagittal being affected in 55% to 60% of the cases, coronal (20% to 25%), metopic (approximately15%) and lambdoid (3% to 5%). Clinical identification is usually within the first year of life.
As with any other condition, a thorough history and physical examination are most helpful in determining the diagnosis.
While taking the history, it is vital to know if there is any family history of abnormal head shapes, in utero exposure to teratogenic drugs, intrauterine restrains, or an abnormal fetal position, as well as any complications during pregnancy and any delayed milestones.
The physical examination allows the clinician to evaluate whether a suture fusion is present and whether any concomitant features would make the craniosynostosis part of a syndrome, like any congenital anomalies and dysmorphic features.
Assessing the skull is critical. Looking at it from all directions and measuring the head circumference to calculate the cephalic index (maximum breadth of the skull multiplied by 100 divided by the maximum length of the skull). The examiner should also note and touch the scalp to feel any sutural ridging, prominent vessels over the skull, and examine and measure the fontanelles.
Besides these, depending on the severity of the condition, the patient might present with other clinical manifestations as consequences of the craniosynostosis, which must be kept in mind and monitored. Therefore an ophthalmologic examination should be done if any signs of intracranial pressure (ICP) are present which will show papilledema. Examine possible airway obstructions and feeding difficulties.
The different non-syndromic craniosynostoses are described below:
The different syndrome presenting with craniosynostoses are described below:
Although the diagnosis is clinical, many professionals will require radiologic imaging to evaluate further and confirm the diagnosis.
The most accurate method is the CT scan with 3D reconstruction, where all sutures are assessable, but due to the radiation risk, this option requires thoughtful consideration. Plain x-rays are low-cost. Therefore they are useful to assess infants will low risk of craniosynostosis, but it is not accurate enough. MRI is less accurate when compared to CT, but is still a great method to use, but usually reserved for children in which the CT revealed any anomalies of the brain.
Ultrasound is a low-cost modality (but technician-dependent) that can only be used with open fontanelles but is very useful to visualize and follow up the sutures at every examination.
New modalities are now in use, like GRASE (gradient-and-spin-echo), a type of MRI, which enhances bone-soft tissue boundaries showing the cranial sutures as hyperintense.
When encountered with syndromic craniosynostosis, genetic testing is the usual followup (recommended mostly when two or more sutures are affected), testing for FGF receptor genes, which have been the genes most commonly related to these syndromes. FGFR2 and FGFR3 undergo testing, as well as transcription factors (TWIST, MSX2). Increasing levels of research have taken place to understand and determine the genetic causes of these syndromes. To date, 57 genes have been identified to have a relationship and be the underlying cause of the craniosynostosis, the most common ones being the ones mentioned above.
The management of these patients depends on the kind of craniosynostosis. The uncomplicated and non-syndromic types can be managed surgically but electively compared to some syndromic forms that require urgent surgical intervention due to the involvement of the airway, ophthalmologic, and neurological system. A conservative approach with remodeling helmets could be attempted first in cases in which unilateral craniosynostosis is not too severe.
The extent, as well as the type of surgery, depend on the age and presentation of the patient. Two modalities are in use:
The main goal of surgery is to create enough space in the cranial vault for the brain to grow and develop properly as well as to provide the child with a more decent-looking appearance.
The best time in which the correction should be done is between 6 to 12 months of age when there are no signs of increased ICP or airway compromise, and this correlates with the period in which the infant’s brain and head grow the most.
The need for additional intervention can always arise and is more bound to occur in syndromic cases.
Positional plagiocephaly requires differentiation from craniosynostosis. It has no premature fusion of sutures. It presents with a parallelogram of the head, ipsilateral anterior displacement of the ear and head, ipsilateral occipital flattening with contralateral occipital bossing. The prevalence has increased over time due to the "back to sleep campaign" to reduce the incidence of sudden infant death syndrome. Still, the only concern is cosmetic, and it can be managed supportively by alternating the side of the head on which the baby sleeps. Remodeling helmets are also an option. This condition does not require surgical intervention and does not affect neurologic development. Parents should be reassured and instructed to continue making the baby sleep on his back.
Left untreated, craniosynostosis can affect the development of the child; this is due to the restriction for growth of the brain and damage to the brain tissue due to increased intracranial pressure. The degree of developmental delay hinges on the kind of craniosynostosis. Children with sagittal synostosis have a lower risk of learning disabilities compared to those with metopic, uni-coronal, or lambdoid synostosis. With early identification of developmental gaps and placement in support programs, a negative academic and cognitive outcome for these children could be reduced if not prevented.
When surgical intervention occurs promptly, cases have an excellent outcome with relatively normal growth and development. Follow up for another fusion of sutures and head growth is crucial to determine the need for re-intervention in these patients, with a particular focus on syndromic craniosynostosis. 
Surgical treatment can lead to several complications like postoperative hyperthermia (most common), infections (meningitis), seizures, subgaleal hematoma, subcutaneous hematoma, and cerebrospinal fluid leakage. The risk of complications increases with reintervention, as well as with open craniotomy (compared to the endoscopic approach where the complications are minimal). In case of severe blood loss, mortality and morbidity can reach up to 50%.
An interprofessional approach to care is essential in the management of patients with craniosynostosis, especially those with syndromic craniosynostosis. The team should include pediatrics, neurosurgery, plastic surgery, maxillofacial surgery, ophthalmology, genetics, nurses, respiratory sleep physician, orthopedics, and later on, a developmental specialist.
Referral to a nurse specializing in developmental pediatric care for early intervention and developmental monitoring is important in the implementation of a special plan of education to improve the patient's possible weaknesses since they are at risk of developmental delay. Early identification and referral for prompt management are key in giving these patients their best chance.
They will also require physical therapy, occupational therapy, speech therapy as well as possible hearing or vision aid, and placement in an appropriate school setting.
Each of these disciplines must engage the other members of the interprofessional healthcare team. They must communicate their findings and ensure that other clinicians are aware of changes or therapy results that have ramifications across interprofessional lines. Only then can outcomes be optimally directed. [Level 5]
The follow up is for a prolonged period because as the infant grows, physical and mental deficits may come to light. With early identification of developmental gap and placement in support programs, a negative academic and cognitive outcome for these children is minimized, if not prevented
The outcomes for most children are guarded and depend on the type of genetic syndrome acquired. But with adequate nursing care, the lives of some children can be improved.
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