Combined metopic and unilateral coronal synostoses: a phenotypic conundrum
Tina M Sauerhammer1, Kamlesh Patel, Albert K Oh
1From the Departments of *Plastic and Reconstructive Surgery, and †Neurosurgery, Boston Children's Hospital, Boston, MA.
The Journal of Craniofacial Surgery
|January 23, 2014
Summary
Combined metopic and unilateral coronal synostoses present a rare cranial deformity. Early intervention can improve outcomes, but surgical revisions are often necessary for this complex condition.
Area of Science:
- Craniofacial Surgery
- Pediatric Neurosurgery
- Medical Genetics
Background:
- Craniosynostosis typically causes predictable cranial shape changes.
- Combined metopic and unilateral coronal synostoses present an anomalous phenotype.
- Understanding this rare condition is crucial for accurate diagnosis and treatment.
Purpose of the Study:
- To clarify the clinical and radiographic features of combined metopic and unilateral coronal synostoses.
- To better understand the phenotype of this rare craniosynostosis.
- To inform treatment strategies for affected individuals.
Main Methods:
- Retrospective review of a craniofacial database.
- Inclusion of patients with combined metopic and unilateral coronal synostoses.
- Collection of demographic, physical, radiographic, genetic, and treatment data.
Main Results:
- Only 3 patients identified with this rare synostosis.
- Distinct phenotypic features include forehead narrowing, brow retrusion, and ear displacement.
- Genetic analysis revealed TWIST gene mutations in 2 patients, consistent with Saethre-Chotzen syndrome.
- Treatment outcomes varied, with some requiring revision surgery despite early intervention.
Conclusions:
- Combined metopic and unilateral coronal synostoses exhibit a rare and unusual phenotype.
- Early intervention is beneficial but often necessitates revisional procedures.
- Further research may elucidate optimal management strategies.
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