Literature DB >> 17107523

Hajdu-Cheney syndrome: report of a family and a short literature review.

I Marik1, M Kuklik, D Zemkowa, K Kozlowski.   

Abstract

We report three members of an Armenian family with Hajdu-Cheney syndrome. The history suggested that five other members of the family were also probably affected. This disorder is important for the radiologist because distinctive radiographic findings make the diagnosis possible before clinical signs and symptoms are fully developed. Additionally, radiographic examination is essential in all patients suspected of Hajdu-Cheney syndrome for confirmation of the clinical diagnosis. Radiographic examination also detects complications of the syndrome not evident on clinical examination.

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Year:  2006        PMID: 17107523     DOI: 10.1111/j.1440-1673.2006.01616.x

Source DB:  PubMed          Journal:  Australas Radiol        ISSN: 0004-8461


  4 in total

Review 1.  Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review.

Authors:  Colin Y L Woon; Steven M Mardjetko
Journal:  Eur Spine J       Date:  2017-11-04       Impact factor: 3.134

2.  Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome.

Authors:  Sena Hwang; Dong Yoeb Shin; Seong Hwan Moon; Eun Jig Lee; Sung-Kil Lim; Ok Hwa Kim; Yumie Rhee
Journal:  Yonsei Med J       Date:  2011-05       Impact factor: 2.759

3.  Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature.

Authors:  Sibtain Ahmed; Aahan Arif; Saadia Abbas; Muhammad Osama Khan; Salman Kirmani; Aysha Habib Khan
Journal:  Ann Med Surg (Lond)       Date:  2021-01-19

4.  Foot Deformities in Hajdu-Cheney Syndrome: A Rare Case Report and Review of the Literature.

Authors:  Ashish B Shah; Breann K Tisano; Osama Elattar; Jackson Rucker Staggers; Sameer Naranje
Journal:  J Orthop Case Rep       Date:  2017 Sep-Oct
  4 in total

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