{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T09:21:43Z","timestamp":1770888103213,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T00:00:00Z","timestamp":1386201600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Lateral meningocele syndrome (LMS) is a rare hereditary connective tissue disorder characterized by pan\u2010spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and\/or muscle weakness. LMS has been observed in eleven patients with two instances of vertical transmission, and seven sporadic cases with an age at diagnosis ranging from 25 months to 33 years. We report on a further observation of LMS in a 55\u2010year\u2010old woman presenting with a long history of joint instability, chronic musculoskeletal pain, and iatrogenic bladder and anorectal dysfunction due to irreversible nerve damage after surgical excision of a meningeal cyst. Her clinical characteristics are compared with those of previously reported patients, as well as two further cases originally diagnosed with Hajdu\u2013Cheney and Ehlers\u2013Danlos syndromes, but displaying typical features of LMS. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36301","type":"journal-article","created":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T18:32:42Z","timestamp":1386268362000},"page":"528-534","source":"Crossref","is-referenced-by-count":18,"title":["Late diagnosis of lateral meningocele syndrome in a 55\u2010year\u2010old woman with symptoms of joint instability and chronic musculoskeletal pain"],"prefix":"10.1002","volume":"164","author":[{"given":"Marco","family":"Castori","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Molecular Medicine Sapienza University, San Camillo\u2010Forlanini Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Morlino","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Molecular Medicine Sapienza University, San Camillo\u2010Forlanini Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Ritelli","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics Department of Molecular and Translational Medicine University of Brescia Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Brancati","sequence":"additional","affiliation":[{"name":"Department of Medical Oral and Biotechnological Sciences Gabriele D'Annunzio University Chieti Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmelilia","family":"De Bernardo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Molecular Medicine Sapienza University, San Camillo\u2010Forlanini Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Colombi","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics Department of Molecular and Translational Medicine University of Brescia Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Grammatico","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Molecular Medicine Sapienza University, San Camillo\u2010Forlanini Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,12,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35968"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33510"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2008.09.580"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1407-z"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33585"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35483"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30526"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1597\/13-063"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-007-0414-6"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970613)70:3<229::AID-AJMG4>3.0.CO;2-R"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34075"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.84357"},{"key":"e_1_2_6_15_1","first-page":"1215","volume-title":"Gorlin's syndromes of the head and neck","author":"Hennekam RCM","year":"2010"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.2176\/nmc.39.380"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00975545"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00701-009-0497-9"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(77)80763-4"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_6_21_1","volume-title":"GeneReviews\u2122 [Internet]","author":"Loeys BL","year":"2008"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.3171\/spi.2007.6.5.465"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1988.68.3.0366"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199510000-00011"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01494.x"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002340050856"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36301","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36301","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T09:19:48Z","timestamp":1696583988000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36301"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,5]]},"references-count":25,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["10.1002\/ajmg.a.36301"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36301","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,5]]}}}