Hajdu-Cheney syndrome: a case report with review of literature

J Radiol Case Rep. 2014 Sep 30;8(9):1-8. doi: 10.3941/jrcr.v8i9.1833. eCollection 2014 Sep.


Hajdu-Cheney syndrome is a very rare connective tissue disorder. It has autosomal dominant inheritance or may occur due to spontaneous de novo mutation. Recent research suggests that it is caused by heterozygous mutation of terminal exon of NOTCH 2. Most characteristic findings include transverse band of acro-osteolysis involving the phalanges of both hands and feet and osteoporosis and deformities involving skull, mandible, spine and other bones. Patient may progressively develop kyphoscoliosis, basilar invagination, and bone fractures due to bone softening. Treatment is symptomatic. In this case report we present clinical and radiological features of a 43-year-old female patient who presented with features of Hajdu-Cheney syndrome.

Keywords: Acro-osteolysis; Hajdu-Cheney syndrome; NOTCH 2; acro-dento-osteo-dysplasia; wormian bones.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Female
  • Foot Bones / diagnostic imaging
  • Hajdu-Cheney Syndrome / complications
  • Hajdu-Cheney Syndrome / diagnostic imaging*
  • Hajdu-Cheney Syndrome / etiology
  • Hand Bones / diagnostic imaging
  • Humans
  • Osteolysis / diagnostic imaging
  • Osteoporosis / etiology
  • Prognosis
  • Radiography
  • Skull / diagnostic imaging