Oculo-auriculo-vertebral spectrum and frontonasal dysplasia are two well-known examples of dysmorphology syndromes. Oculoauriculofrontonasal syndrome (OAFNS) is a clinical entity involving the characteristics of both OAVS and FND and is thought to be a result of the abnormal development of structures in the first and the second branchial arches, including the abnormal morphogenesis of maxillary processes. Herein we report a case of OAFNS with cliteral hypertrophy, premaxillary teeth, and inguinal hernia, features not previously reported in the literature.
Video 1. Angiographic view of the muscle bridge in distal part of the left anterior descending artery possibly compressing and causing myocardial ischemia
Bilateral simultaneous nonarteritic anterior ischaemic optic neuropathy (NAION) is extremely rare. A 57-year-old woman presented with bilateral optic disc oedema and peripapillary splinter haemorrhages. Initial visual acuities were hand movements in the right eye and light perception in the left eye. The patient had a mildly elevated diastolic blood pressure and glucose intolerance. Erythrocyte sedimentation rate and C-reactive protein levels were within normal limits. Temporal artery biopsy was negative for temporal arteritis. Marked visual improvement occurred in both eyes (0.8 in the right eye, 0.6 in the left eye) after systemic steroid therapy in the 16th month of follow-up.
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