五、治疗建议

无特殊治疗方法，对症治疗腭裂、听力障碍及关节症状。

参考文献

［1］Karaer K，Rosti R O，Torun D，et al.A case with oto-spondylo-mega-epiphyseal-dysplasia（OSMED）：The clinical recognition and differential diagnosis［J］.The Turkish Journal of Pediatrics，2011，53（3）：346-351.

［2］Harel T，Rabinowitz R，Hendler N，et al.COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome：Molecular and clinical overlap with otospondylomegaepiphyseal dysplasia（OSMED）［J］.American Journal of Medical Genetics Part A，2005，132A（1）：33-35.(https://www.daowen.com)

［3］Li S W，Takanosu M，Arita M，et al.Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice：Comparison with the human disorder otospondylomegaepiphyseal dysplasia（OSMED）［J］.Developmental Dynamics，2001，222（2）：141-152.

［4］van Steensel M A M，Buma P，de Waal Malefijt M C，et al.Oto-spondylo-megaepiphyseal dysplasia（OSMED）：Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene［J］.American Journal of Medical Genetics，1997，70（3）：315-323.

（邢向辉　臧睿觉）