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Rhizomelic Chondrodysplasia Punctata and Eye Anesthesia: A case report
(Düzce Üniversitesi, 2014) Kirman, Müge; Aslan, Mehmet Ümit; Tüysüz, Beyhan; Bozkurt, Pervin Sutaş; Güngör, Gürcan; Anesthesia, Eye
Rhizomelic chondrodysplasia punctata (RCDP) is a rare congenital syndrome that is connectedto peroxisomal metabolic disorder. Punctate calcification disorder in epiphyseal cartilage,cataract in both eyes, hypertelorism, saddle-shaped nose, prominent forehead, high-archedpalate, kyphoscoliosis, short humerus and femur, hip dislocation, progressive restriction of thejoints, and mental retardation are seen.Our patient’s height, weight and head circumference were below the 3rd percentile. Thesepatients undergo eye surgeries for cataract and glaucoma and eye examinations under generalanaesthesia. Our patient had received nine times general anaesthesia previously. The most recent45 days apart had surgery for glaucoma in both eyes and received two more times generalanaesthesia. In this case we present our general anaesthesia procedures and the challenges wefaced during general anaesthesia. These were difficulty in intubation and finding intravenousaccess. Close monitoring, uncomplicated anaesthesia and perioperative airway control in these patientsare important for successful anaesthetic management