Objective: To analyze the clinical features and diagnostic and therapeutic procedure of microtia in Klippel-Feil syndrome(KFS),and to summarize the experiences on diagnosis and treatment of this kind of rare disease to avoid misdiagnosing. .
Methods: Between May 2014 and July 2015,six patients with microtia were diagnosed with suspected cervical vertebral malformation through physical examination and X-ray. Then they underwent additional examinations to evaluate the degree of deformities and relative risks:pure tone test, chest CT,cervical spine CT,temporal CT, echocardiography and ultrasonic on kidney and ureters. Ear reconstruction was performed with soft tissue skin expander and autogenous rib cartilage framework.
Results: The six patients were diagnosed as KFS with microtia, which had different degree of cervical fusion and thoracic vertebral fusion. Some of them had rib deformity, scoliosis, congenital renal malformation and so on. Of 6 patients, scar formation occurred in 1 case after ear reconstruction, whose new ears had good position and appearance at 1 month after stage Ⅱ. After operation,6 cases were followed up for 8-20 months (median,12 months),none of them had nerve injury. Five cases had completed the third stage. All of them were well-healed after one month. Three cases were followed up for 3-11 months, the reconstructed ears had a three-dimensional configuration, and the cranioauricular angle of the reconstructed ears were similar to the opposite ears
Conclusions: The primary step of comprehensive therapy in microtia with KFS is to diagnose definitely. Enhancing perioperative management can reduce surgery-related risks. It is ought to pay attention to nerve injury in a long-term follow-up.