Syndromic Craniosynostosis Complications

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• Syndromic Craniosynostosis: The Hidden Burden of Comorbidities on Surgical Outcomes
• The Revolutionary Role of Ultrasound in Anaesthetic Management of Apert Syndrome: A Report of Two Cases
• Canine Brachycephalic Obstructive Airway Syndrome impacts respiratory and hemodynamic physiological adaptations during pregnancy
• Craniosynostosis: Experience From a Single Tertiary Center in India
• A "Smurf-Cap" head requiring total cranial vault reshaping. A novel syndromic presentation of craniofrontonasal dysplasia associated with spina bifida
• Advances in the study of signaling pathways in Global developmental delay /Intellectual disability combined with congenital craniofacial malformation

Syndromic craniosynostosis refers to the premature fusion of cranial sutures associated with a genetic syndrome, such as Crouzon Syndrome, Pfeiffer Syndrome, Apert Syndrome, or Saethre Chotzen Syndrome. Unlike non-syndromic forms, these patients often present with multisuture synostosis and a higher risk of neurological, respiratory, visual, and craniofacial complications.

Chiari Malformation – descent of the cerebellar tonsils due to posterior fossa volume restriction, often progressive with age

Hydrocephalus – impaired cerebrospinal fluid flow due to skull base crowding or venous hypertension

Syringomyelia – formation of a fluid-filled cavity within the spinal cord, sometimes associated with Chiari

Skull Base Anomaly – such as Platybasia, Basilar Invagination, or Odontoid Retroflexion

Raised intracranial pressure – often from cranial vault restriction, venous outflow obstruction, or airway compromise

Proptosis – due to shallow orbits

Exposure keratopathy – secondary to eyelid malposition and exophthalmos

Papilledema – indicator of increased intracranial pressure

Strabismus – misalignment of the eyes, often requiring early intervention

Obstructive sleep apnea – from midface hypoplasia, choanal atresia, or narrow nasal passages

Tracheal anomalies – such as tracheal cartilaginous sleeve

Laryngomalacia – floppy laryngeal structures causing stridor and breathing difficulty

Conductive hearing loss – due to recurrent otitis media or ossicular malformations

Speech delay – often multifactorial, linked to hearing loss, craniofacial dysmorphisms, or neurodevelopmental issues

Some syndromes, such as Apert, may include variable degrees of intellectual disability

Early surgical correction and multidisciplinary support can improve neurodevelopmental outcomes

Syndactyly – common in Apert Syndrome

Spinal anomalies – such as scoliosis or fused vertebrae in selected syndromes

In a retrospective multicenter study by Pablo M. Munarriz and collaborators, they address the underexplored area of cranial base anomaly and craniocervical junction malformations in patients with genetically confirmed syndromic craniosynostosis ¹⁾.

The study offers valuable insights into the prevalence and progression of abnormalities such as Chiari malformation type I (CMI), platybasia, odontoid retroflexion, basilar invagination, and syringomyelia.

A major strength lies in the systematic radiological evaluation using midsagittal MRI metrics, including basal angle, pB-C2, and clivoaxial angle, providing objective and reproducible anatomical criteria. The inclusion of a follow-up MRI in 56 out of 77 patients adds a dynamic perspective to disease evolution.

The study reveals a statistically significant increase in CMI frequency over time (from 7.8% to 21.4%, P = .021), especially within Crouzon syndrome and Pfeiffer syndrome patients. This finding supports the hypothesis of progressive cerebellar tonsillar descent associated with cranial base growth abnormalities and potentially increased intracranial pressure. Conversely, other malformations such as basilar invagination and odontoid retroflexion remained rare, with only marginal changes over time. Interestingly, platybasia declined in prevalence, possibly indicating developmental compensation or variability in diagnostic criteria.

However, some limitations should be noted. The study does not explore clinical correlations (e.g., headache, myelopathy), limiting the translational relevance of the radiological findings. Furthermore, although the cohort is relatively large for a rare disease study, the subgroup analysis by syndrome is underpowered for definitive comparisons. Longitudinal follow-up periods and potential confounders (e.g., prior surgeries) are not detailed.

In summary, this paper enriches our understanding of the natural history of cranial base anomalies in syndromic craniosynostosis, highlighting the need for vigilant long-term radiological monitoring in selected syndromes. Future studies should aim to integrate clinical outcomes and investigate the impact of early surgical intervention on the evolution of CMI and related pathologies.