Hand Deformities in Hajdu-Cheney Syndrome: A Case Series of 3 Patients Across 3 Consecutive Generations

Jiménez, Isidro; Medina-Gontier, Julie; Caballero, Jonathan; Medina, Jorge

doi:10.1016/j.jhsa.2020.02.012

Cited by 5 publications

(11 citation statements)

References 10 publications

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“…The disease progresses over time, a fact which is most noticeable in the deterioration of the musculoskeletal apparatus. This patient presented deformities of the hands, such as those described by Jiménez et al [41] Shurtleff et al [42] Brown et al [10] and Ventosa et al [43]; of the feet, such as those described by Greenberg et al [44] and Colmenares Roldán et al [45]; of the knees, as discussed by Weleber et al [40]; and of the spine, reported by Vissarionow et al [46] and Chawla [47]. This worsening at a skeletal level is accompanied by a considerable loss of strength that increases the disabling nature of the syndrome.…”

Section: Discussionmentioning

confidence: 58%

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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Section: Discussionmentioning

confidence: 58%

Hajdu-Cheney Syndrome: Report of a Case in Spain

et al. 2022

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“…Deformities in hands are observed, as in the cases described by Jiménez et al [ 46 ], Shurtleff et al [ 47 ], Brown et al [ 13 ] and Ventosa et al [ 48 ] in feet, highlighting this finding in the patients of Greenberg et al [ 49 ] and Colmenares Roldán et al [ 50 ].…”

Section: Discussionmentioning

confidence: 63%

Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report

Cortés-Martín

Díaz‐Rodríguez

Piqueras-Sola

et al. 2022

JCM

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A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis, musculoskeletal and craniofacial alterations, short stature, bowing of long bones, vertebral anomalies, genu recurvatum, hypertrichosis, joint and skin hyperlaxity, atopic dermatitis, megalocorneas, micrognathia and frequent respiratory infections, among others. Treatment is with bisphosphonates in the framework of bone density improvement and with focal vibration therapy for rehabilitation of the musculoskeletal system and gait improvement. The three generalities of this pathology—phenotypic variability, degenerative character and the presence of generalized osteoporosis and acroosteolysis of the distal phalanges—are seen in this case, whose diagnostic confirmation was made by genetic study.

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“…The patient in this report presented 7 out of 10 manifestations of the objective inclusion criteria proposed by Brennan and Pauli (2001), who extensively reviewed 57 cases with HCS (Table 2). 1 Acro‐osteolysis has been a consistent feature in HCS cases reported in the literature 1–4,7–9 . Although the exact mechanism is unknown, the osteolytic lesion in the distal phalanges could be caused by a localized increase in bone resorption 10 .…”

Section: Discussionmentioning

confidence: 94%

“…HCS is a rare genetic disorder usually affecting the skeletal system. It has been also referred to as artrodento‐osteodysplasia, hereditary osteodysplasia with acro‐osteolysis, and familial idiopathic acro‐osteolysis 1,2 . It is autosomal dominant in inheritance but the majority of cases described in the literature are sporadic in nature 7 .…”

Section: Discussionmentioning

confidence: 99%

“…Hajdu‐Cheney syndrome (HCS) is a rare genetic disorder with an autosomal dominant pattern of inheritance 1 . HCS was first described clinically and radiographically by Hajdu and Kauntze in 1948 as cranio‐skeletal dysplasia and later by Cheney in 1965 2 . The prevalence of HCS is unknown with less than 100 cases reported in the literature, till date 3 .…”

Section: Introductionmentioning

confidence: 99%

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Orofacial characteristics in a child with Hajdu‐Cheney syndrome

Saji,

Devi K,

Morankar

et al. 2023

Special Care in Dentistry

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Hajdu‐Cheney syndrome (HCS) also known as Cranio‐skeletal dysplasia is a rare genetic disorder of bone metabolism. It is mainly characterized by acro‐osteolysis and generalized osteoporosis. The other distinctive features include a dysmorphic face, short stature, aplasia of facial sinuses, and persistent cranial sutures. Although the condition begins to manifest since birth, the characteristic features become more prominent with age. This syndrome is usually recognized by dentists due to these craniofacial abnormalities. This case report aims to highlight a case of 6‐year‐old girl HCS who presented with aberrant facial features, premature exfoliation of teeth, unusual mobility of teeth and atypical root resorption in primary dentition.

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Hand Deformities in Hajdu-Cheney Syndrome: A Case Series of 3 Patients Across 3 Consecutive Generations

Cited by 5 publications

References 10 publications

Hajdu-Cheney Syndrome: Report of a Case in Spain

Hajdu-Cheney Syndrome: Report of a Case in Spain

Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report

Orofacial characteristics in a child with Hajdu‐Cheney syndrome

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