Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome

Ornetti, Paul; Tavernier, C

doi:10.1016/j.jbspin.2012.03.012

Cited by 5 publications

(6 citation statements)

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“…When analyzing the surgical aspect, we found studies focused on the treatment of complications of HCS, such as cervical kyphotic deformities in patients with osteoporosis by Mattei et al [72], dental restorations by Vingerhoedt et al [73] and Liljeström et al [74], spinal reconstruction by de Murtagh-Schaffer et al [28], and translation of the radius by Fujioka et al [75] and Ornetti et al [27], who were able to treat a vertebral compression fracture surgically. It is also worth mentioning the studies of Yamaguchi et al [76] and August et al [77] on anesthesia and specific treatment indications for patients with HCS prior to surgery, as well as the study on post-surgical analgesia for pain management by Zietz et al [78].…”

Section: Treatmentmentioning

confidence: 99%

“…In all lesions, osteolysis has a transverse pattern across the width of the terminal phalanx (white arrows). The most frequent clinical complications in this syndrome are basilar invagination, and consequently, brain damage, hydrocephalus [19], syringomyelia [57], vertebral collapse due to compression [27], and ventilatory restriction caused by a thoracic deformity [24].…”

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confidence: 99%

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Hajdu–Cheney Syndrome: A Systematic Review of the Literature

Cortés-Martín

Díaz‐Rodríguez

Piqueras-Sola

et al. 2020

IJERPH

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Hajdu–Cheney syndrome (HCS) is a rare genetic disease that causes acroosteolysis and generalized osteoporosis, accompanied by a series of developmental skeletal disorders and multiple clinical and radiological manifestations. It has an autosomal dominant inheritance, although there are several sporadic non-hereditary cases. The gene that has been associated with Hajdu-Cheney syndrome is NOTCH2. The described phenotype and clinical signs and symptoms are many, varied, and evolve over time. As few as 50 cases of this disease, for which there is currently no curative treatment, have been reported to date. The main objective of this systematic review was to evaluate the results obtained in research regarding Hajdu–Cheney Syndrome. The findings are reported in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines and were registered on the web PROSPERO under the registration number CRD42020164377. A bibliographic search was carried out using the online databases Orphanet, PubMed, and Scielo; articles from other open access sources were also considered. Finally, 76 articles were included, and after their analysis, we have obtained a series of hypotheses as results that will support further studies on this matter.

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Section: Treatmentmentioning

confidence: 99%

mentioning

confidence: 99%

Hajdu–Cheney Syndrome: A Systematic Review of the Literature

Cortés-Martín

Díaz‐Rodríguez

Piqueras-Sola

et al. 2020

IJERPH

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“…Other substances that may cause MRONJ are as follows: monoclonal antibodies, tyrosine kinase inhibitors, radiopharmaceuticals, mammalian target of rapamycin inhibitors, selective estrogen receptor modulators, immunosuppressants, and tocilizumab (a newly classified drug related to osteonecrosis of the jaws used to treat COVID-19 patients) [30,31]. Surgical treatment of HCS patients includes orthopedic treatment, e.g., cervical kyphotic deformities [32], spinal reconstruction [33], or translation of the radius in the course of treatment of a vertebral compression fracture [34,35].…”

Section: Introductionmentioning

confidence: 99%

Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab—A Rare Case Report

Kaczoruk-Wieremczuk

Adamska

Adamski

et al. 2021

IJERPH

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Background: Hajdu-Cheney syndrome (HCS) is a very rare autosomal-dominant congenital disease associated with mutations in the NOTCH2 gene. This disorder affects the connective tissue and is characterized by severe bone resorption. Hajdu-Cheney syndrome most frequently affects the head and feet bones (acroosteolysis). Case report: We present an extremely rare case of a 34-year-old male with Hajdu-Cheney syndrome. The patient was admitted to the Department of Oral Surgery, Medical University of Gdańsk, in order to perform the extraction of three teeth. These teeth were not eligible for conservative treatment and prosthetic reconstruction. The patient was treated with denosumab (angiogenesis and receptor activator of nuclear factor-κB RANK ligand inhibitor, RANKL). Discussion: Denosumab is a monoclonal antibody against RANKL. This drug works through a suppression of osteoclast activity. In cases of patients in which the pathway of the RANK/RANKL/osteoprotegerin is dysregulated, denosumab has been approved for the treatment off-label. In patients receiving denosumab, a delayed wound healing in the oral cavity and osteonecrosis may occur. Dental procedures involving the alveolar bone process (tooth extractions and bone alveoloplasty) may be a risk factor for medication-related osteonecrosis of the jaw (MRONJ). Spontaneous osteonecrosis is rarely observed. MRONJ consists of the destruction of exposed bone, with the exposure persisting for a minimum of 6–8 weeks. This is the first article about an HCS patient treated with denosumab who underwent invasive oral surgery procedures. This case report highlights the difficulties for professionals occurring during the oral surgery procedures in such patients.

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“…Clínicamente se describe una acro-osteolisis de manos y pies, hiperlaxitud, alteraciones craneofaciales y vertebrales, persistencia de suturas craneanas y fontanelas abiertas, además de características faciales tales como micrognatia, hipertelorismo, implantación baja de orejas y filtrum largo entre otros. [1][2][3][4][5][6][7][8][9] Es producto de una rara alteración genética de herencia autosómica con variabilidad en su presentación clínica, también con casos descritos de ocurrencia espontánea, 3 asociada a una alteración en el gen NOTCH2; gen involucrado en la homeostasis y diferenciación de osteoblastos y osteoclastos. 2,7 Se cree que la afección ósea a nivel de manos y pies es resultado de una reabsorción ósea aumentada, el mecanismo por el cual se produce la osteoporosis generalizada es desconocido.…”

Section: Introductionunclassified

Artrodesis total de muñeca en paciente con síndrome de Hajdu Cheney – reporte de caso

Sanhueza

Reyes

García

et al. 2019

Rev Chil Ortop Traumatol

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ResumenEl síndrome de Hajdu-Cheney, es una patología infrecuente caracterizada por alteraciones esqueléticas que se manifiestan con acro-osteolisis y osteoporosis generalizada. Su frecuencia es extremadamente rara y existen escasos reportes en la literatura a nivel mundial. Se presenta un caso de un paciente con colapso avanzado del carpo producto de una no unión de escafoides no tratada. Se describen características clínicas y radiográficas del paciente y la resolución del caso con artrodesis total de muñeca.

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Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome

Cited by 5 publications

References 0 publications

Hajdu–Cheney Syndrome: A Systematic Review of the Literature

Hajdu–Cheney Syndrome: A Systematic Review of the Literature

Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab—A Rare Case Report

Artrodesis total de muñeca en paciente con síndrome de Hajdu Cheney – reporte de caso

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