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Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.
Am J Med Genet A 2017; 173(4):914-929AJ

Abstract

Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test. This descriptive research was aimed at better characterizing the clinical phenotype of JHS/EDS-HT with focus on available diagnostic criteria, and in order to propose novel features and assessment strategies. One hundred and eighty-nine (163 females, 26 males; age: 2-73 years) patients from two Italian reference centers were investigated for Beighton score, range of motion in 21 additional joints, rate and sites of dislocations and sprains, recurrent soft-tissue injuries, tendon and muscle ruptures, body mass index, arm span/height ratio, wrist and thumb signs, and 12 additional orthopedic features. Rough rates were compared by age, sex, and handedness with a series of parametric and non-parametric tools. Multiple correspondence analysis was carried out for possible co-segregations of features. Beighton score and hypermobility at other joints were influenced by age at diagnosis. Rate and sites of joint instability complications did not vary according to age at diagnosis except for soft-tissue injuries. No major difference was registered by sex and dominant versus non-dominant body side. At multiple correspondence analysis, selected features tend to co-segregate in a dichotomous distribution. Dolichostenomelia and arachnodactyly segregated independently. This study pointed out a more protean musculoskeletal phenotype than previously considered according to available diagnostic criteria for JHS/EDS-HT. Our findings corroborated the need for a re-thinking of JHS/EDS-HT on clinical grounds in order to find better therapeutic and research strategies. © 2017 Wiley Periodicals, Inc.

Authors+Show Affiliations

Unit of Clinical Genetics, San Camillo-Forlanini General Hospital, Rome, Italy.Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical Faculty, University of Brescia, Brescia, Italy.Biostatistics, San Gallicano Dermatologic Institute, Rome, Italy.Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital,, Brescia, Italy.Division of Physical Therapy and Rehabilitation, Department of Orthopedic Sciences, Sapienza University, Umberto I University Hospital, Rome, Italy.Division of Physical Therapy and Rehabilitation, Department of Orthopedic Sciences, Sapienza University, Umberto I University Hospital, Rome, Italy.Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical Faculty, University of Brescia, Brescia, Italy.Unit of Clinical Genetics, San Camillo-Forlanini General Hospital, Rome, Italy.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28266107

Citation

Morlino, Silvia, et al. "Refining Patterns of Joint Hypermobility, Habitus, and Orthopedic Traits in Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome, Hypermobility Type." American Journal of Medical Genetics. Part A, vol. 173, no. 4, 2017, pp. 914-929.
Morlino S, Dordoni C, Sperduti I, et al. Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. Am J Med Genet A. 2017;173(4):914-929.
Morlino, S., Dordoni, C., Sperduti, I., Venturini, M., Celletti, C., Camerota, F., ... Castori, M. (2017). Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. American Journal of Medical Genetics. Part A, 173(4), pp. 914-929. doi:10.1002/ajmg.a.38106.
Morlino S, et al. Refining Patterns of Joint Hypermobility, Habitus, and Orthopedic Traits in Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome, Hypermobility Type. Am J Med Genet A. 2017;173(4):914-929. PubMed PMID: 28266107.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. AU - Morlino,Silvia, AU - Dordoni,Chiara, AU - Sperduti,Isabella, AU - Venturini,Marina, AU - Celletti,Claudia, AU - Camerota,Filippo, AU - Colombi,Marina, AU - Castori,Marco, Y1 - 2017/03/07/ PY - 2016/04/26/received PY - 2016/12/07/accepted PY - 2017/3/8/pubmed PY - 2017/10/31/medline PY - 2017/3/8/entrez KW - Beighton score KW - Ehlers-Danlos syndrome KW - Marfanoid habitus KW - diagnostic criteria KW - dislocations KW - joint hypermobility SP - 914 EP - 929 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 173 IS - 4 N2 - Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test. This descriptive research was aimed at better characterizing the clinical phenotype of JHS/EDS-HT with focus on available diagnostic criteria, and in order to propose novel features and assessment strategies. One hundred and eighty-nine (163 females, 26 males; age: 2-73 years) patients from two Italian reference centers were investigated for Beighton score, range of motion in 21 additional joints, rate and sites of dislocations and sprains, recurrent soft-tissue injuries, tendon and muscle ruptures, body mass index, arm span/height ratio, wrist and thumb signs, and 12 additional orthopedic features. Rough rates were compared by age, sex, and handedness with a series of parametric and non-parametric tools. Multiple correspondence analysis was carried out for possible co-segregations of features. Beighton score and hypermobility at other joints were influenced by age at diagnosis. Rate and sites of joint instability complications did not vary according to age at diagnosis except for soft-tissue injuries. No major difference was registered by sex and dominant versus non-dominant body side. At multiple correspondence analysis, selected features tend to co-segregate in a dichotomous distribution. Dolichostenomelia and arachnodactyly segregated independently. This study pointed out a more protean musculoskeletal phenotype than previously considered according to available diagnostic criteria for JHS/EDS-HT. Our findings corroborated the need for a re-thinking of JHS/EDS-HT on clinical grounds in order to find better therapeutic and research strategies. © 2017 Wiley Periodicals, Inc. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/28266107/Refining_patterns_of_joint_hypermobility_habitus_and_orthopedic_traits_in_joint_hypermobility_syndrome_and_Ehlers_Danlos_syndrome_hypermobility_type_ L2 - https://doi.org/10.1002/ajmg.a.38106 DB - PRIME DP - Unbound Medicine ER -