Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for evaluation of craniosynostosis associated with Saethre-Chotzen syndrome. Clinical history significant for TWIST1 mutation, characterized by bicoronal synostosis, low frontal hairline, ptosis, and syndactyly of the digits. Parents report concerns regarding cranial vault morphology, midface hypoplasia, and functional impact on vision and airway.
Clinical Examination Findings
Physical examination reveals brachycephaly with flattened forehead and bicoronal synostosis. Ocular findings include bilateral ptosis, hypertelorism, and proptosis. Facial features demonstrate midface hypoplasia and a deviated nasal septum. Extremities show cutaneous syndactyly, typically involving the second and third digits. Neurological status is intact; no signs of elevated intracranial pressure.
Treatment Protocol
Surgical management plan includes cranial vault remodeling and fronto-orbital advancement to address craniosynostosis and increase intracranial volume. Secondary procedures may include ptosis repair, midface distraction osteogenesis for hypoplasia, and syndactyly release. Multidisciplinary approach involving neurosurgery, plastic surgery, ophthalmology, and orthodontics is mandatory.