{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:53:29Z","timestamp":1761101609222},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,6,17]],"date-time":"2002-06-17T00:00:00Z","timestamp":1024272000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,7,22]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a case of a girl with both Angelman syndrome and split\u2010cord malformation. The child was initially referred at the age of 2.5 years, for developmental delay and a possible diagnosis of spina bifida occulta, based on the presence of a hair tuft located on the midline of the lumbar area. Magnetic resonance imaging of the spine showed split\u2010cord malformation below L1, whereas a cytogenetically detected deletion of chromosome bands 15q11\u2010q13 (SNRPN) confirmed the clinical diagnosis of Angelman syndrome. Split\u2010cord malformation or diastematomyelia is a rare form of spina bifida occulta that occurs sporadically and is not particularly related to specific syndromes. Hair patches or other distinctive cutaneous stigmata such as those seen in the present case have not, to our knowledge, been reported in other patients with Angelman syndrome; therefore, the association of Angelman syndrome and split\u2010cord malformation in this child is probably coincidental. Spinal cord abnormalities have not been consistently reported in patients with Angelman syndrome; only one adult patient with Angelman syndrome and spina bifida occulta has been reported, and this association was probably considered fortuitous. However, some relatively uncommon clinical features such as deterioration of gait, lower limb malformations, and bladder dysfunction, particularly as the patients age, although nonspecific, are reminiscent of such a cause. We therefore urge clinicians to look for cutaneous stigmata along the spine and consider the evaluation of the spinal cord in children with apparent paraparesis, out of proportion to that usually seen in Angelman syndrome, should our case report not just be a coincidental observation. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10412","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:52:48Z","timestamp":1033905168000},"page":"57-60","source":"Crossref","is-referenced-by-count":7,"title":["Split\u2010cord malformation in a girl with Angelman syndrome: A mere coincidence?"],"prefix":"10.1002","volume":"111","author":[{"given":"Sotiria D.","family":"Mastroyianni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleftherios","family":"Kontopoulos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,6,17]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990910)86:2<180::AID-AJMG18>3.0.CO;2-5"},{"key":"e_1_2_4_3_1","first-page":"A4","article-title":"Incontinence in Angelman syndrome: a sample survey study","volume":"1","author":"Bossman ITM","year":"1997","journal-title":"Eur J Paed Neurol"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441976"},{"key":"e_1_2_4_5_1","first-page":"A2","article-title":"Angelman syndrome: 23 years clinical history of first Belgian diagnosed case","volume":"1","author":"Braeckeveldt J","year":"1997","journal-title":"Eur J Paed Neurol"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981204)80:4<385::AID-AJMG15>3.0.CO;2-9"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560213"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<221::AID-AJMG19>3.0.CO;2-V"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(200022)97:2<136::AID-AJMG5>3.0.CO;2-V"},{"key":"e_1_2_4_10_1","first-page":"A3","article-title":"Motor strategies in Angelman syndrome, spastic diplegia and normal children","volume":"1","author":"Dan B","year":"1997","journal-title":"Eur J Paed Neurol"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1042-3680(18)30467-4"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(05)70241-8"},{"key":"e_1_2_4_13_1","first-page":"603","article-title":"Split cord malformations\u2014a clinical study of 48 cases","volume":"37","author":"Jindal A","year":"2000","journal-title":"Indian Pediatr"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1964.21.1.0066"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-199309000-00006"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430412"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1227\/00006123-199209000-00010"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)36427-3"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<415::AID-AJMG16>3.0.CO;2-K"},{"key":"e_1_2_4_20_1","first-page":"A4","article-title":"Institutionalized adults with Angelman syndrome","volume":"1","author":"Therasse F","year":"1997","journal-title":"Eur J Paed Neurol"},{"key":"e_1_2_4_21_1","first-page":"A2","article-title":"The Angelman project","volume":"1","author":"Tiranoff L","year":"1997","journal-title":"Eur J Paed Neurol"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10412","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10412","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T16:08:12Z","timestamp":1697472492000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10412"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,6,17]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,7,22]]}},"alternative-id":["10.1002\/ajmg.10412"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10412","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,6,17]]}}}