{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:04:18Z","timestamp":1756425858089,"version":"3.44.0"},"reference-count":7,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,1,19]]},"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:p>Ehlers-Danlos syndrome (EDS), hypermobility type, is probably the most common EDS type, as well as the most common heritable connective tissue disorder. Bladder dysfunction is a rare clinical manifestation of EDS and manifests itself as primary nocturnal enuresis. We present a 10-year-old boy referred to the paediatrics nephrology consultation due to primary nocturnal enuresis and day time symptoms of urinary urgency. During the appointment, a tendency to joint hypermobility was noted. On evaluation the skin was hyperextensible and the Beighton score was positive. The genetic testing revealed a variant of the <jats:italic>COL5A1<\/jats:italic> gene not yet described in the literature.<\/jats:p>","DOI":"10.1136\/bcr-2019-231977","type":"journal-article","created":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T04:39:15Z","timestamp":1580877555000},"page":"e231977","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Ehlers-Danlos syndrome presenting with primary nocturnal enuresis"],"prefix":"10.1136","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0090-2464","authenticated-orcid":false,"given":"Margarida","family":"Cunha","sequence":"first","affiliation":[{"name":"Paediatrics, Centro Hospitalar Barreiro Montijo EPE, Barreiro, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mafalda","family":"Matias","sequence":"additional","affiliation":[{"name":"Paediatrics, Centro Hospitalar Barreiro Montijo EPE, Barreiro, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"In\u00eas","family":"Marques","sequence":"additional","affiliation":[{"name":"Paediatrics, Centro Hospitalar Barreiro Montijo EPE, Barreiro, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,2,4]]},"reference":[{"key":"2025082804115834000_13.2.e231977.1","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1097\/MOP.0000000000000541","article-title":"Contemporary approach to joint hypermobility and related disorders","volume":"29","author":"Castori","year":"2017","journal-title":"Curr Opin Pediatr"},{"key":"2025082804115834000_13.2.e231977.2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.5402\/2012\/751768","article-title":"Ehlers-Danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations","volume":"2012","author":"Castori","year":"2012","journal-title":"ISRN Dermatol"},{"key":"2025082804115834000_13.2.e231977.3","unstructured":"Rodney Grahame AJH . Joint hypermobility syndrome Uptodate [Internet] (p1-19), 2018. Available: https:\/\/www.uptodate.com\/contents\/joint-hypermobility-syndrome\/"},{"key":"2025082804115834000_13.2.e231977.4","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1097\/01.ju.0000091643.35118.d3","article-title":"Lower urinary tract dysfunction in children with generalized hypermobility of joints","volume":"170","author":"de Kort","year":"2003","journal-title":"J Urol"},{"key":"2025082804115834000_13.2.e231977.5","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/s00431-013-2120-6","article-title":"Generalized joint hypermobility and voiding dysfunction in children: is there any relationship?","volume":"173","author":"Kajbafzadeh","year":"2014","journal-title":"Eur J Pediatr"},{"key":"2025082804115834000_13.2.e231977.6","unstructured":"Sobreira Nara MVA . EHLERS_SYNDROME, CLASSIC TYPE, 1; EDSCL1 [Internet]., 2013. Available: https:\/\/www.omim.org\/entry\/130000"},{"key":"2025082804115834000_13.2.e231977.7","unstructured":"Adam MP , Ardinger HH , Pagon RA , et al . Hypermobile Ehlers-Danlos syndrome. 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