What causes pectus excavatum?

Updated: Oct 30, 2018
  • Author: Andre Hebra, MD; Chief Editor: Girish D Sharma, MD, FCCP, FAAP  more...
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Answer

In pectus excavatum, the growth of bone and cartilage in the anterior chest wall is abnormal, typically affecting 4-5 ribs on each side of the sternum. The appearance of the defect widely varies, from mild to very severe cases, and some patients present with significant asymmetry between the right and left sides. The exact mechanism involved in this abnormal bone and cartilage overgrowth is not known, and, to date, no known genetic defect is directly responsible for the development of pectus excavatum. Despite the lack of an identifiable genetic marker, the familial occurrence of pectus deformity is reported in 35% of cases. Moreover, the condition is associated with Marfan syndrome and Poland syndrome.


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