{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:24Z","timestamp":1761717924009},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,2,11]],"date-time":"2004-02-11T00:00:00Z","timestamp":1076457600000},"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":[[2004,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Wolf\u2013Hirschhorn syndrome (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet appearance of the facies, seizures\/epilepsy. Closure defects of lip or palate, and cardiac septum defects occur in 30\u201350% of cases. Its cause is a deletion in the short arm of chromosome 4. We present a male patient, born after 37 weeks gestation, as the fourth pregnancy of non\u2010consanguineous healthy parents, with unilateral cleft lip and palate, hypertelorism, a right\u2010sided ear tag, and mild epispadias. At age 10 weeks he developed acute respiratory distress and acute bowel obstruction requiring emergency laparotomy. This revealed a left\u2010sided posterolateral diaphragmatic defect, type Bochdalek, with incarceration of the small intestines necessitating major bowel resection. Clinical genetic investigation suggested a chromosome anomaly, but regular karyotyping was normal. However, FISH analysis showed a microdeletion in the short arm of chromosome 4 (4p\u2010), consistent with WHS. A combination of this syndrome with congenital diaphragmatic hernia (CDH) has been rarely described. CDH can present either as an isolated defect at birth, or with multiple congenital abnormalities, or as part of a defined syndrome or chromosomal disorder. Therefore CDH, although not common in WHS, can lead to its diagnosis relatively early in life. We strongly recommend a clinical genetic evaluation of each CDH patient with facial anomalies taking into consideration 4p\u2010 deletion syndrome. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20613","type":"journal-article","created":{"date-parts":[[2004,4,20]],"date-time":"2004-04-20T18:02:25Z","timestamp":1082484145000},"page":"194-196","source":"Crossref","is-referenced-by-count":19,"title":["Early diagnosis of Wolf\u2013Hirschhorn syndrome triggered by a life\u2010threatening event: Congenital diaphragmatic hernia"],"prefix":"10.1002","volume":"127A","author":[{"given":"M.F.","family":"van Dooren","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.S.","family":"Brooks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.J.M.","family":"Hoogeboom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.L.","family":"van den Hoonaard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.E.M.M.","family":"de Klein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.H.","family":"Wouters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Tibboel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,2,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<541::AID-AJMG18>3.0.CO;2-K"},{"key":"e_1_2_5_3_1","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S0065-3101(23)00074-9","article-title":"Wolf\u2013Hirschhorn (4p\u2010) syndrome","volume":"48","author":"Battaglia A","year":"2001","journal-title":"Adv Pediatr"},{"key":"e_1_2_5_4_1","volume-title":"Gene Reviews: Genetic disease online reviews at gene tests\u2010geneclinics (database online)","author":"Battaglia A","year":"2002"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530108"},{"key":"e_1_2_5_6_1","first-page":"14","article-title":"Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion","volume":"4","author":"Cooper H","year":"1961","journal-title":"Mamm Chrom Nwsl"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980923)79:3<215::AID-AJMG13>3.0.CO;2-K"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199611)16:11<1003::AID-PD995>3.0.CO;2-D"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb01357.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1464-410X.1998.00885.x"},{"key":"e_1_2_5_11_1","first-page":"285","article-title":"Wolf\u2013Hirschhorn syndrome: Case report and review of the chromosomal aberrations associated with diaphragmatic defects","volume":"90","author":"Sergi C","year":"1998","journal-title":"Pathologica"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03257.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420460605"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980203)75:4<345::AID-AJMG2>3.0.CO;2-P"}],"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.20613","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20613","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,13]],"date-time":"2024-01-13T03:41:48Z","timestamp":1705117308000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20613"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2,11]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["10.1002\/ajmg.a.20613"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20613","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,2,11]]}}}