European Spine Journal

, Volume 27, Supplement 3, pp 403–408 | Cite as

Extreme proximal junctional kyphosis—a complication of delayed lambdoid suture closure in Hajdu–Cheney syndrome: a case report and literature review

  • Colin Y. L. WoonEmail author
  • Steven M. Mardjetko
Case Report



To describe the manifestations, surgical treatment, and potential complications of Hajdu–Cheney syndrome (HCS), and the management of these complications.


The clinical presentation, management and outcome of HCS with severe osteoporosis and open skull sutures is presented, together with a literature review.


A 20-year-old female with HCS underwent posterior occipitocervical fusion for symptoms of progressive basilar invagination. Because of delayed lambdoid suture closure, the stiff fusion construct lead to increased suture distraction, most notably in the upright (suture-open) position, with relief in the supine (suture-closed) position. This was successfully remedied with extension of the fusion construct anteriorly over the skull vertex to the frontal bones.


In patients with HCS and other conditions with delayed suture closure, the surgeon must be cognizant of the presence of mobility at the suture lines, and consider extending the fusion construct anteriorly over the skull vertex up to the frontal bones. Because of significant osteoporosis in these syndromes, multiple fixation points and augmentation with bone graft are important principles.


Hajdu–Cheney syndrome Platybasia Calvarial sutures Wormian bones Cranial nerves 


Compliance with ethical standards

Conflict of interest

None of the authors has any potential conflict of interest.


  1. 1.
    Canalis E, Zanotti S (2014) Hajdu–Cheney syndrome: a review. Orphanet J Rare Dis 9:200. CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Palav S, Vernekar J, Pereira S, Desai A (2014) Hajdu–Cheney syndrome: a case report with review of literature. J Radiol Case Rep 8:1–8. PubMedPubMedCentralCrossRefGoogle Scholar
  3. 3.
    Van den Houten BR, Ten Kate LP, Gerding JC (1985) The Hajdu–Cheney syndrome. A review of the literature and report of 3 cases. Int J Oral Surg 14:113–125CrossRefPubMedGoogle Scholar
  4. 4.
    Di Rocco F, Oi S (2005) Spontaneous regression of syringomyelia in Hajdu–Cheney syndrome with severe platybasia. Case report. J Neurosurg 103:194–197. PubMedCrossRefGoogle Scholar
  5. 5.
    Faure A, David A, Moussally F, Khalfallah M, Jacquemont S, Hamel O, Conti M, Hamel A, Raoul S, Robert R (2002) Hajdu–Cheney syndrome and syringomyelia. Case report. J Neurosurg 97:1441–1446. CrossRefPubMedGoogle Scholar
  6. 6.
    Zahran M, Eklof O, Ritzen M (1984) Arthro-osteo-renal dysplasia. Report of a case. Acta Radiol Diagn 25:39–43CrossRefGoogle Scholar
  7. 7.
    Diren HB, Kovanlikaya I, Suller A, Dicle O (1990) The Hajdu–Cheney syndrome: a case report and review of the literature. Pediatr Radiol 20:568–569CrossRefPubMedGoogle Scholar
  8. 8.
    Brennan AM, Pauli RM (2001) Hajdu–Cheney syndrome: evolution of phenotype and clinical problems. Am J Med Genet 100:292–310CrossRefPubMedGoogle Scholar
  9. 9.
    Marik I, Kuklik M, Zemkowa D, Kozlowski K (2006) Hajdu–Cheney syndrome: report of a family and a short literature review. Australas Radiol 50:534–538. CrossRefPubMedGoogle Scholar
  10. 10.
    Weleber RG, Beals RK (1976) The Hajdu–Cheney syndrome. Report of two cases and review of the literature. J Pediatr 88:243–249CrossRefPubMedGoogle Scholar
  11. 11.
    Udell J, Schumacher HR Jr, Kaplan F, Fallon MD (1986) Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the Hajdu–Cheney syndrome. Arthritis Rheum 29:1032–1038CrossRefPubMedGoogle Scholar
  12. 12.
    Leidig-Bruckner G, Pfeilschifter J, Penning N, Limberg B, Priemel M, Delling G, Ziegler R (1999) Severe osteoporosis in familial Hajdu–Cheney syndrome: progression of acro-osteolysis and osteoporosis during long-term follow-up. J Bone Miner Res 14:2036–2041. CrossRefPubMedGoogle Scholar
  13. 13.
    Golnik KC, Kersten RC (1998) Optic nerve head swelling in the Hadju–Cheney syndrome. J Neuro Ophthalmol 18:60–65CrossRefGoogle Scholar
  14. 14.
    Sawin PD, Menezes AH (1997) Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management. J Neurosurg 86:950–960. CrossRefPubMedGoogle Scholar
  15. 15.
    Chodoroff G, MacRitchie M, Honet JC (1984) Hajdu–Cheney syndrome: rehabilitation after decompression of cervical spinal cord compromise. Arch Phys Med Rehabil 65:205–207PubMedGoogle Scholar
  16. 16.
    Ponnusamy KE, Iyer S, Gupta G, Khanna AJ (2011) Instrumentation of the osteoporotic spine: biomechanical and clinical considerations. Spine J 11:54–63. CrossRefPubMedGoogle Scholar
  17. 17.
    DeWald CJ, Stanley T (2006) Instrumentation-related complications of multilevel fusions for adult spinal deformity patients over age 65: surgical considerations and treatment options in patients with poor bone quality. Spine 31:S144–S151. CrossRefPubMedGoogle Scholar
  18. 18.
    Tanimoto A, Tamaki N, Nagashima T, Nakamura M (1996) Syringomyelia associated with Hajdu–Cheney syndrome: case report. Neurosurgery 39:400–403CrossRefPubMedGoogle Scholar
  19. 19.
    Galli-Tsinopoulou A, Kyrgios I, Giza S, Giannopoulou EZ, Maggana I, Laliotis N (2012) Two-year cyclic infusion of pamidronate improves bone mass density and eliminates risk of fractures in a girl with osteoporosis due to Hajdu–Cheney syndrome. Minerva Endocrinol 37:283–289PubMedGoogle Scholar
  20. 20.
    McKiernan FE (2008) Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu–Cheney syndrome: 2-year follow-up. Osteoporos Int 19:379–380. CrossRefPubMedGoogle Scholar
  21. 21.
    Stathopoulos IP, Trovas G, Lampropoulou-Adamidou K, Koromila T, Kollia P, Papaioannou NA, Lyritis G (2013) Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu–Cheney syndrome. Bone 52:366–371. CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany 2017

Authors and Affiliations

  1. 1.Department of Orthopaedic SurgeryUniversity of Illinois at ChicagoChicagoUSA
  2. 2.Illinois Bone and Joint InstituteMorton GroveUSA

Personalised recommendations