Literature DB >> 32162201

Bone Disease in Patients with Ehlers-Danlos Syndromes.

Shuaa Basalom1, Frank Rauch2.   

Abstract

PURPOSE OF REVIEW: To summarize the bone findings, mainly bone mass and fracture risk, in Ehlers-Danlos syndromes (EDS). RECENT
FINDINGS: Low bone mineral density and fractures seem to be frequent in some of the rare EDS types (kyphoscoliotic, arthrochalasia, spondylodysplastic, and classic-like EDS). For the more prevalent hypermobile and classic EDS types, some case-control studies found mildly decreased bone mineral density, but it was not clear that fracture rates were increased. Nevertheless, abnormalities in vertebral shape seem to be common in classical and hypermobile EDS types. In a cohort of individuals with EDS followed since birth, no fractures were observed during infancy. Bone mineral density varies widely among the different types of EDS, and vertebral abnormalities seem to be common in classical and hypermobile EDS. It might be justified to perform spine radiographs and bone mineral density assessments in newly diagnosed EDS.

Entities:  

Keywords:  Bone mass; Bone mineral density; Ehlers–Danlos syndrome; Fracture risk

Mesh:

Year:  2020        PMID: 32162201     DOI: 10.1007/s11914-020-00568-5

Source DB:  PubMed          Journal:  Curr Osteoporos Rep        ISSN: 1544-1873            Impact factor:   5.096


  52 in total

Review 1.  Ehlers-Danlos syndrome, classical type.

Authors:  Jessica M Bowen; Glenda J Sobey; Nigel P Burrows; Marina Colombi; Mark E Lavallee; Fransiska Malfait; Clair A Francomano
Journal:  Am J Med Genet C Semin Med Genet       Date:  2017-02-13       Impact factor: 3.908

2.  Fracture prediction and the definition of osteoporosis in children and adolescents: the ISCD 2013 Pediatric Official Positions.

Authors:  Nick Bishop; Paul Arundel; Emma Clark; Paul Dimitri; Joshua Farr; Graeme Jones; Outi Makitie; Craig F Munns; Nick Shaw
Journal:  J Clin Densitom       Date:  2014-03-14       Impact factor: 2.617

3.  Clinical features of Ehlers-Danlos syndrome.

Authors:  Jui-Lung Yen; Shuan-Pei Lin; Ming-Ren Chen; Dau-Ming Niu
Journal:  J Formos Med Assoc       Date:  2006-06       Impact factor: 3.282

4.  Ehlers Danlos syndrome and osteoporosis.

Authors:  A A Deodhar; A D Woolf
Journal:  Ann Rheum Dis       Date:  1994-12       Impact factor: 19.103

5.  Osteoporosis and Ehlers-Danlos syndrome.

Authors:  P C Coelho; R A Santos; J A Gomes
Journal:  Ann Rheum Dis       Date:  1994-03       Impact factor: 19.103

Review 6.  Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.

Authors:  Peter H Byers; John Belmont; James Black; Julie De Backer; Michael Frank; Xavier Jeunemaitre; Diana Johnson; Melanie Pepin; Leema Robert; Lynn Sanders; Nigel Wheeldon
Journal:  Am J Med Genet C Semin Med Genet       Date:  2017-03       Impact factor: 3.908

7.  An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

Authors:  Luisa Mackenroth; Björn Fischer-Zirnsak; Johannes Egerer; Jochen Hecht; Tilmann Kallinich; Werner Stenzel; Birgit Spors; Arpad von Moers; Stefan Mundlos; Uwe Kornak; Kerstin Gerhold; Denise Horn
Journal:  Am J Med Genet A       Date:  2016-01-22       Impact factor: 2.802

8.  Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.

Authors:  Tim Van Damme; Xiaomeng Pang; Brecht Guillemyn; Sandrine Gulberti; Delfien Syx; Riet De Rycke; Olivier Kaye; Christine E M de Die-Smulders; Rolph Pfundt; Ariana Kariminejad; Sheela Nampoothiri; Geneviève Pierquin; Saskia Bulk; Austin A Larson; Kathryn C Chatfield; Marleen Simon; Anne Legrand; Marion Gerard; Sofie Symoens; Sylvie Fournel-Gigleux; Fransiska Malfait
Journal:  Hum Mol Genet       Date:  2018-10-15       Impact factor: 6.150

9.  The relationship of joint hypermobility, bone mineral density, and osteoarthritis in the general population: the Chingford Study.

Authors:  A Louise Dolan; Debbie J Hart; David V Doyle; Rodney Grahame; Tim D Spector
Journal:  J Rheumatol       Date:  2003-04       Impact factor: 4.666

10.  Epidemiology of generalized joint laxity (hypermobility) in fourteen-year-old children from the UK: a population-based evaluation.

Authors:  Jacqui Clinch; Kevin Deere; Adrian Sayers; Shea Palmer; Chris Riddoch; Jonathan H Tobias; Emma M Clark
Journal:  Arthritis Rheum       Date:  2011-09
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  6 in total

Review 1.  Ehlers-Danlos syndrome: what the radiologist needs to know.

Authors:  Michael P George; Natasha E Shur; Jeannette M Peréz-Rosselló
Journal:  Pediatr Radiol       Date:  2021-05-17

Review 2.  Genetic causes of fractures and subdural hematomas: fact versus fiction.

Authors:  Natasha E Shur; Maxwell L Summerlin; Bruce J McIntosh; Eglal Shalaby-Rana; Tanya S Hinds
Journal:  Pediatr Radiol       Date:  2021-05-17

3.  Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders.

Authors:  Lucia Micale; Carmela Fusco; Marco Castori
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

4.  Idiopathic osteoporosis, Ehlers-Danlos syndrome, postural orthostatic tachycardia syndrome, and mast cell activation disorder in a 27-year-old male patient: A unique case presentation.

Authors:  Cameron Rattray
Journal:  Clin Case Rep       Date:  2022-05-20

Review 5.  Ehlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.

Authors:  Marta Martín-Martín; Jonathan Cortés-Martín; Maria Isabel Tovar-Gálvez; Juan Carlos Sánchez-García; Lourdes Díaz-Rodríguez; Raquel Rodríguez-Blanque
Journal:  Int J Environ Res Public Health       Date:  2022-02-07       Impact factor: 3.390

6.  Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.

Authors:  Marco Ritelli; Marina Venturini; Valeria Cinquina; Nicola Chiarelli; Marina Colombi
Journal:  Orphanet J Rare Dis       Date:  2020-07-31       Impact factor: 4.123

  6 in total

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