BGN and skeletal dysplasia: Mild skeletal dysplasia, characterized by hip dislocation, platyspondyly, phalangeal dysplasia, and dysplastic epiphyses of the long bones, was also reported in males with a deletion of the coding part of BGN. Due to the X-linked nature of the disorder, the phenotype in females varied greatly, ranging from unaffected upon repeated echocardiographic evaluation to death due to aortic dissection12.