A girl with Hajdu-Cheney syndrome and premature ovarian failure

Nozaki, Takafumi; Ihara, Kenji; Makimura, Mika; Kinjo, Tadamune; Hara, Toshiro

doi:10.1515/jpem-2011-0443

Cited by 5 publications

(5 citation statements)

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“…Amalnath et al [53] mention micrognathia as another characteristic of HCS throughout his study. Another three remarkable groups in this thematic block are Takafumi et al [54] and their case of premature ovarian failure; Sargin et al [55], who mention congenital cardiovascular alterations; Swan et al [56], who confirm that HCS can also cause congenital alterations of the ocular system with the results of their study.…”

Section: Description Of the Disease And Evolution Of The Phenotypementioning

confidence: 89%

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: Description Of the Disease And Evolution Of The Phenotypementioning

confidence: 89%

Hajdu–Cheney Syndrome: A Systematic Review of the Literature

Cortés-Martín

Díaz‐Rodríguez

Piqueras-Sola

et al. 2020

IJERPH

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“…Fibrocystic mastopathy and fibroadenomas have not been reported in any of the cases in the literature to date. One of the few descriptions of gynecological issues in this syndrome was carried out by Nozaki [53], who presented the case of a woman with premature ovarian insufficiency.…”

Section: Discussionmentioning

confidence: 99%

Hajdu-Cheney Syndrome: Report of a Case in Spain

et al. 2022

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This paper describes the case of a 54-year-old woman diagnosed with Hajdu–Cheney syndrome, who presents with characteristic craniofacial dysmorphia, short stature, premature loss of teeth, developmental skeletal disorders, fibrocystic mastopathy, bilateral hearing loss and an intermittent mild neutropenia. The patient received treatment with bisphosphonates and was awaiting evaluation for surgical arthroplasty of both hips when she suffered a motor vehicle accident, which led to a rapid progression in her disease by increasing her degree of dependence for most activities of daily living. The clinical presentation and radiologic findings seen in this case confirm the three main features of the syndrome: phenotypic variability, an age-dependent progression and the presence of generalized osteoporosis and acroosteolysis of distal phalanges. The main objective of the manuscript is to describe a new case of a patient diagnosed with Hajdu–Cheney syndrome. Due to the low prevalence of the syndrome and the small number of cases reported in the scientific literature, obtaining a complete description and a global perspective of the disease is complex.

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“…Sexuality need not be affected in these cases; however, it is important to identify possible risks in the reproductive function of women affected by HCS, especially if complications have already been diagnosed, as in the case of the patient reported by Nozaki et al [ 72 ].…”

Section: Discussionmentioning

confidence: 99%

Nursing Care Plan for Patients with Hajdu–Cheney Syndrome

Cortés-Martín

Díaz‐Rodríguez

Piqueras-Sola

et al. 2022

IJERPH

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Hajdu–Cheney syndrome is a rare genetic disease. Its main features include phenotypic variability, age-dependent progression and the presence of acroosteolysis of the distal phalanges and generalized osteoporosis, which have significant disabling potential. Currently, there is no effective curative treatment, so nursing care is essential to ensure the maintenance of the quality of life of these patients. The main objective of this study was to establish a specific standardized nursing care plan using the NANDA–NIC–NOC taxonomy. The application of a care plan as such would improve the quality of life of patients affected by this rare disease, will contribute to increasing healthcare professionals’ knowledge on this matter and will support future studies on this disease.

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A girl with Hajdu-Cheney syndrome and premature ovarian failure

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

Hajdu-Cheney Syndrome: Report of a Case in Spain

Nursing Care Plan for Patients with Hajdu–Cheney Syndrome

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