Sponduloepiphyseal dysplasia congenital / 医学研究生学报

ABSTRACT

Objective:To report and analyze a rare family of sponduloepiphyseal dysplasia congenital(SEDC) in order to supply more resources for genetic bone disease. Methods:Investigation and analysis was performed on a four generation's family of SEDC.Clinic characteristics including X-ray image and chromosome analysis were evaluated.Results:Nine persons suffered from SEDC in this four(generation's) family.The patients presented with same clinical characteristics.The main bone damages affected vertebrae,articulatio coxae,caput femoris and neck. Conclusion:The mode of inheritance of SEDC may be autosomal dominant inheritance.Gene defect during embryonic period may interfere the growth of osteoepiphysis.Further molecular pathologic studies were needed to find the evidence of genetic prognostication of SEDC.