Presentation of Syndromic Craniosynostosis in Children

Symptoms and Signs

Patterns of evolution

Patterns of evolution vary with the different syndromes. When assessing the child and planning treatment, the general patterns that must be considered as the cranium and midface grow are as follows:

• Head shape: The head shape will alter with growth, depending on the sutural involvement. The aim of treatment of the head shape is to normalize the skull and facial appearance as much as possible, which may require multiple procedures through childhood and the teenage years.
• ICP: Patients with multisuture synostosis are at risk of developing raised ICP, putting cognitive function and vision at risk. The onset of headaches, behavioral disturbance, concerns about vision, or radiological features suggesting raised ICP should lead to consideration of ICP monitoring.
• Orbital growth and corneal eyelid coverage: Close collaboration with ophthalmologists is required to monitor the visual status. If concerns about corneal coverage become apparent due to restricted orbital growth, forehead advancement should be considered
• Cranio-cervical junction effects with growth: Syndromic craniosynostosis is commonly associated with tonsillar herniation and abnormal venous anatomy around the craniocervical junction. Evaluation with MRI, MRV, and MR/CT angiography should be carried out in all cases.
• Airway patency: If airway patency is compromised by mid-face retraction, tracheostomy or the use of nasal prongs should be considered prior to a mid-face advancement.
• Sleep apnea: Patients should be evaluated for sleep apnea. In conjunction with ENT surgeons, tonsillectomy/adenoidectomy should be considered.
• Feeding: If feeding is compromised by raised ICP or airway difficulties, then a period of nasogastric feeding may be necessary. It is rare for a gastrostomy or intravenous feeding to be required.

Time for evolution

• Variable: The time for evolution varies with the syndrome and severity of the condition. For example some patients with Apert syndrome may present in early infancy with problems related to ophthalmic dislocation, lack of corneal eyelid coverage, and impaired airway patency. These problems need to be addressed urgently, sometimes in the first days of life.
• Vulnerability persists into adulthood: Skull growth, ICP problems, and craniocervical junction difficulties may gradually evolve over months to years and may require addressing in late adolescence or early adulthood. Follow-up into adulthood is required.

Evaluation at Presentation

Evaluation will vary with the age at presentation and the individual syndrome. All children with suspected syndromal craniosynostosis require evaluation by members of the following specialties:

• Craniofacial surgical team: The extent of the abnormalities of skull shape and the ICP levels are evaluated to determine what action is required and when.
• Ophthalmology: Ophthalmologists evaluate visual function and the risk to it from either raised ICP or lack of eyelid cover.
• Otolaryngology: The ENT service is consulted for evaluation of the airway.
• Pediatrics: The organ systems must be thoroughly assessed by pediatricians.. Other systemic abnormalities and malformations are common in children with syndromic craniosynostosis and must be excluded before the initial surgery. Cardiac, kidney, and airway function need to be assessed within the first week of life; and a ventricular septal defect, horseshoe kidney, or a shortened malformed airway must be excluded.
• Genetics: A consultation with geneticists is done to confirm the clinical diagnosis.
• Radiology: Imaging of the craniocervical junction and spine is obtained as part of the initial evaluation. In the syndromic patient, initial imaging should always include the craniocervical junction and cervical spine to exclude a Chiari malformation, bifid first cervical vertebra, and fused vertebrae.

Intervention at Presentation

The presentation is so variable that multidisciplinary evaluation and an individual treatment plan are required in each case.

Admission Orders

• Routine