Apert's syndrome: Report of a rare case
A 14-year-old boy presented with the complaints of malaligned teeth, difficulty in chewing food, and facial deformity. His past medical history revealed that he had undergone suturotomy surgery for relieving craniosynostosis 11 years ago and plastic surgery for relieving syndactyly 5 years ago. His chest radiograph revealed no abnormality. He had hypochromic microcytic anemia since 11 years and experienced seizures occasionally since 1 year. He had bilateral optic disc edema since birth, for which the treatment was still ongoing. He also suffered from severe acne last year for which treatment lasted for 7-8 months. Prenatal history revealed that he had premature birth by 40 days. His parents were nonconsanguineously married in their 3rd decade. No other family members were affected by same features.\nOn examination, the boy was found to have a flattened occiput with frontal prominence, abnormal contour of head (brachycephaly), shallow and downward slanting orbits with bilateral proptosis, hypertelorism, retruded midface, and prognathic mandible [Figures and ]. Intraoral examination showed normal mouth opening with anterior open bite and a high arched (V-shaped) palatal vault. Maxillary alveolar ridges were thick with crowding of maxillary teeth. Mandibular teeth were normally aligned []. He had symmetrical syndactyly with complete fusion of all digits of hands (except thumb) and feet []. The systemic examination revealed that patient has some ophthalmologic, ear, and central nervous system abnormalities.\nOn investigation, Water's view radiograph showed deformity of maxilla with malaligned maxillary teeth and deviated nasal septum []. Lateral cephalogram showed concave profile with retruded midfacial bone and fusion between cervical vertebra C5, C6, and C7 []. CT scan of the brain revealed premature fusion of coronal and lamdoid sutures with bilateral proptosis, deviation of nasal septum, and turricephalic skull. It also revealed a bone defect in the vault of skull due to previous operative procedures []. Magnetic resonance imaging (MRI) of brain also revealed abnormal skull shape with similar changes. Due to these typical features and presence of the triad of craniosynostosis, syndactyly of hands and feet with maxillary hypoplasia, patient was diagnosed with AS. Patient was advised orthodontic treatment with orthognathic surgery for correction of the facial dysmorphisms. As patient was not ready for any interventional procedures, only oral prophylactic measures were taken and he was kept under regular follow-up.