Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for evaluation of Jackson-Weiss Syndrome (FGFR2 mutation). Clinical history significant for craniosynostosis, midface hypoplasia, and characteristic foot anomalies. Parents report concerns regarding cranial vault morphology, ocular proptosis, and progressive functional impairment in gait due to tarsal/metatarsal coalition. No history of obstructive sleep apnea or increased intracranial pressure symptoms at this time.
Clinical Examination Findings
Physical examination reveals bicoronal synostosis with brachycephalic skull configuration. Facial assessment demonstrates significant midface retrusion, hypertelorism, and proptosis. Oral exam shows high-arched palate and dental crowding. Extremity exam confirms broad, medially deviated great toes with cutaneous syndactyly of the second and third toes. Tarsal coalition noted on palpation of the midfoot. Neurological exam is non-focal.
Treatment Protocol
Multidisciplinary surgical management plan initiated. 1. Cranial vault remodeling/distraction osteogenesis to address synostosis and intracranial volume. 2. Le Fort III midface advancement for functional and aesthetic correction of midface hypoplasia. 3. Orthopedic consultation for foot deformity correction (osteotomies/syndactyly release). 4. Serial monitoring for intracranial pressure and obstructive sleep apnea.