title: Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.
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.affiliation: Unit of Clinical Genetics, San Camillo-Forlanini General Hospital, Rome, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Morlino
authors.affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical Faculty, University of Brescia, Brescia, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Dordoni
authors.affiliation: Biostatistics, San Gallicano Dermatologic Institute, Rome, Italy.
authors.forename: Isabella
authors.initials: I
authors.lastname: Sperduti
authors.affiliation: Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital,, Brescia, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Venturini
authors.affiliation: Division of Physical Therapy and Rehabilitation, Department of Orthopedic Sciences, Sapienza University, Umberto I University Hospital, Rome, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Celletti
authors.affiliation: Division of Physical Therapy and Rehabilitation, Department of Orthopedic Sciences, Sapienza University, Umberto I University Hospital, Rome, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: Camerota
authors.affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical Faculty, University of Brescia, Brescia, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Colombi
authors.affiliation: Unit of Clinical Genetics, San Camillo-Forlanini General Hospital, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000886:Anthropometry; D015992:Body Mass Index; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D004204:Joint Dislocations / Q000175:diagnosis* / Q000473:pathology; D007593:Joint Instability / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology; D007596:Joints; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D010641:Phenotype; D016059:Range of Motion, Articular / Q000502:physiology; D012737:Sex Factors; D013180:Sprains and Strains / Q000175:diagnosis* / Q000473:pathology; D013710:Tendons / Q000473:pathology
keywords: Beighton score; Ehlers-Danlos syndrome; Marfanoid habitus; diagnostic criteria; dislocations; joint hypermobility