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period, and respiratory distress due to laryngotracheomalacia contributes to neonatal death in these patients. Therefore, only a few patients with CMD survive past infancy. Survivors beyond infancy may also have scoliosis, short stature, and hearing loss with age. CMD is caused by haploinsufficiency of the SOX9 gene at 17q24. The SOX9 protein is widely expressed as a transcription factor in many different tissues and organs during embryonic development and has also been suggested to play critical roles in the initiation and maintenance of chondrocyte differentiation and in male sex differentiation along with SRY. 4) Only one report of a genetically-confirmed CMD case in Korea is available. A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene