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Complex craniosynostosis in the context of Carpenter's syndrome.
Carpenter's syndrome or acrocephalopolysyndactyly type II is a rare genetic autosomal recessive disease, with an incidence estimated at 1 per 1 million births. Common findings of a brachydactyly, polysyndactyly, and a trefoil-like skull with extreme brachycephaly due to fusion of the bilateral coronal, sagittal and lambdoid sutures. We report a 12-month-old male who was referred to our care for evaluation of a craniofacial deformity-a trefoil-like skull, flattened and receding forehead, bulging of temporal bones, hypertelorism, exorbitism, and polysyndactyly in the upper and lower limbs and psychomotor delay. Head computed tomography (CT) with 3D reconstruction revealed craniosynostosis with fusion of the coronal, metopic, and sagittal sutures. Correction of the craniofacial deformity was performed with satisfactory aesthesis of the craniofacial bones at 2 years of follow-up. Early correction of craniofacial deformity in Carpenter's syndrome is usually safe within 6 to 12 months. Venous drainage abnormalities and ectatic emissary veins can lead to significant bleeding and may be detected on MR angiography. Significant skull weakening may lead to bony fragmentation while creating cranial flaps and is best evaluated with 3D CT imaging. Taking these pitfalls into consideration decreases the chances of aborting the surgery and may lead to better overall outcomes.
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