Concurrent Presentations of Hereditary Spherocytosis and Craniosynostosis Syndromes in Siblings: A Case Series

Abstract

Hereditary spherocytosis (HS) and craniosynostosis syndromes such as Crouzon syndrome or Pfeiffer syndrome are rare genetic disorders that do not commonly have overlapping symptoms or etiologies. Crouzon syndrome is a rare autosomal dominant disorder that is classically recognized by craniosynostosis causing secondary exophthalmos and hypertelorism, among other features.1-3 HS is a more common autosomal dominant disorder that is defined by red blood cell membrane defects leading to a lifelong extrinsic hemolytic anemia, often necessitating a splenectomy.4-6 The genetics driving these diseases do not share common or overlapping features. The key distinction lies in the fact that Crouzon syndrome arises usually from de novo mutations from an affected or unaffected parent, whereas HS is most commonly inherited from an affected parent.7,8 These 2 very distinct syndromes have not previously been reported together in the same patient, let alone multiple members of the same family. In this case series, we describe 3 cases of siblings affected by both HS and a craniosynostosis syndrome.