{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:18:09Z","timestamp":1791296289389,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2008,2,11]],"date-time":"2008-02-11T00:00:00Z","timestamp":1202688000000},"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":[[2008,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A newborn girl presented with asphyxia, joint contractures and diminished spontaneous movements. Echocardiography showed hypoplastic left heart. Spinal muscular atrophy type I (SMA I) was diagnosed by detecting a homozygous deletion in the survival motor neuron 1 gene (<jats:italic>SMN1<\/jats:italic>). In the first trimester of a subsequent pregnancy, SMA I, hypoplastic left heart, and contractures were identified again. Congenital heart defects (CHD) have now been reported in 20 patients with SMA I, including three previously reported siblings and our two siblings, leading us to hypothesize that SMA I\/CHD represents a unique phenotype of SMA I rather than a coincidental association. The homozygous <jats:italic>SMN1<\/jats:italic> deletion may play a role in the development of CHD when it occurs in the presence of mutations or polymorphisms in other genes important for cardiac development. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32233","type":"journal-article","created":{"date-parts":[[2008,2,11]],"date-time":"2008-02-11T22:19:51Z","timestamp":1202768391000},"page":"740-744","source":"Crossref","is-referenced-by-count":49,"title":["Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature"],"prefix":"10.1002","volume":"146A","author":[{"given":"Leonie A.","family":"Menke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bwee Tien","family":"Poll\u2010The","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally\u2010Ann","family":"Clur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catia M.","family":"Bilardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allard C.","family":"van der Wal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henny H.","family":"Lemmink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan Maarten","family":"Cobben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,2,11]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"5679","article-title":"Very severe spinal muscular atrophy\u2013type 0. A cause of congenital multiple arthrogryposis","volume":"163","author":"Balslev T","year":"2001","journal-title":"Ugeskr Laeger"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.3.848"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)92206-7"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.12.1927"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1025312603880"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951105002131"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.8.1205"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.12.761"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e3282f1884c"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1437-6"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-004-0825-3"},{"key":"e_1_2_5_13_1","first-page":"233","article-title":"Role of signs of fetal hypokinesia in the diagnosis of spinal muscular atrophy of neonatal onset","volume":"56","author":"Gonzalez De Dios J","year":"2002","journal-title":"An Esp Pediatr"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(73)90810-2"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(93)90082-N"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.3.878"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.suppl_3.III-136"},{"key":"e_1_2_5_19_1","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1007\/BF03061635","article-title":"Hypoplastisch linker hart syndroom als uiting van een bijzondere vorm van de ziekte van Werdnig\u2010Hoffmann","volume":"74","author":"Menke LA","year":"2006","journal-title":"Tijdschr Kindergeneeskd"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03553.x"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973805"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(06)80015-5"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807307105"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10110"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1006\/bmme.1997.2590"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973741"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100006077"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951105000132"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1242\/jeb.00216"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.cir.0000032878.55215.bd"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807299954"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1995.00540290108025"}],"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.32233","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32233","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:21:37Z","timestamp":1697617297000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32233"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,11]]},"references-count":31,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2008,3,15]]}},"alternative-id":["10.1002\/ajmg.a.32233"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32233","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,11]]}}}