{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T01:17:37Z","timestamp":1789780657677,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,1,21]],"date-time":"2015-01-21T00:00:00Z","timestamp":1421798400000},"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":[[2015,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Pallister\u2010Hall syndrome is a complex malformation syndrome characterized by a wide range of anomalies including hypothalamic hamartoma, polydactyly, bifid epiglottis, and genitourinary abnormalities. It is usually caused by truncating frameshift\/nonsense and splicing mutations in the middle third of <jats:italic>GLI3<\/jats:italic>. The clinical course ranges from mild to lethal in the neonatal period. We present the first patient with Pallister\u2010Hall syndrome reported with total colonic aganglionosis, a rare form of Hirschsprung disease with poor long\u2010term outcome. The patient also had an imperforate anus, which is the third individual with Pallister\u2010Hall syndrome reported with both Hirschsprung disease and an imperforate anus. Molecular testing via amniocentesis showed an apparently de novo novel nonsense mutation c.2641 C&gt;T (p.Gln881*). His overall medical course was difficult and was complicated by respiratory failure and pan\u2010hypopituitarism. Invasive care was ultimately withdrawn, and the patient expired at three months of age. This patient's phenotype was complex with unusual gastrointestinal features ultimately leading to a unfavorable prognosis and outcome, highlighting the range of clinical severity in patients with Pallister\u2010Hall syndrome. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36915","type":"journal-article","created":{"date-parts":[[2015,1,21]],"date-time":"2015-01-21T14:50:43Z","timestamp":1421851843000},"page":"617-620","source":"Crossref","is-referenced-by-count":10,"title":["Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister\u2010Hall syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Mindy H.","family":"Li","sequence":"first","affiliation":[{"name":"Division of Human Genetics Department of Pediatrics University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moriah","family":"Eberhard","sequence":"additional","affiliation":[{"name":"Center for Fetal Diagnosis and Treatment The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Mudd","sequence":"additional","affiliation":[{"name":"Division of Pediatric Otolaryngology Department of Otorhinolaryngology\/Head and Neck Surgery University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luv","family":"Javia","sequence":"additional","affiliation":[{"name":"Division of Pediatric Otolaryngology Department of Otorhinolaryngology\/Head and Neck Surgery University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Zimmerman","sequence":"additional","affiliation":[{"name":"Department of Radiology University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nahla","family":"Khalek","sequence":"additional","affiliation":[{"name":"Center for Fetal Diagnosis and Treatment The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Department of Surgery University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Department of Pediatrics University of Pennsylvania Perelman School of Medicine and The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,1,21]]},"reference":[{"key":"e_1_2_5_2_1","unstructured":"BieseckerL Pallister\u2010Hall Syndrome.2000May 25 [Updated 2012 Sep 13]. In:PagonRA AdamMP ArdingerHH et al. editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington Seattle; 1993\u20132014. Available from:http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1465\/."},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2009.08.003"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070111"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.10.006"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070110"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(03)00411-1"},{"key":"e_1_2_5_8_1","first-page":"1182","volume-title":"Syndromes with Unusual Facies: Other Syndromes (Pallister\u2010Hall Syndrome)","author":"Hennekam R","year":"2010"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-013-3352-2"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/429346"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21328"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0397-266"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050605"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-012-3117-3"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)61747-6"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-009-2408-9"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.sempedsurg.2012.07.004"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2009.04.026"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33720"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20338"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/302557"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30818"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199410000-00005"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80392-0"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.8.605"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03401719"}],"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.36915","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36915","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36915","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T18:49:29Z","timestamp":1696618169000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36915"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,21]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1002\/ajmg.a.36915"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36915","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,1,21]]}}}