Chiari I malformation and idiopathic growth hormone deficiency in siblings: report of three cases

Introduction The authors report a case of three brothers. Case descriptions Two of these siblings presented with congenital growth hormone deficiency (GHD) and Chiari I malformation (CIM). The third younger brother has been found not to have GHD or the CIM. Discussion Sparse cases of these two clinical occurrences have been reported. Further, the posterior cranial fossa (PF) has been determined to be altered in patients with CIM and GHD. Conclusion Our current case reports strengthen the association between these two pathological entities and, to our knowledge, is the first description of both defects in siblings.