{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:53:01Z","timestamp":1747191181766,"version":"3.40.5"},"reference-count":26,"publisher":"Wiley","license":[{"start":{"date-parts":[[2022,5,19]],"date-time":"2022-05-19T00:00:00Z","timestamp":1652918400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2022,5,19]]},"abstract":"<jats:p>Introduction. Pituitary differentiation involves a large number of transcription factors. In particular, BMP4 expression is fundamental for pituitary gland commitment from the ventral diencephalon, suppressing Shh expression in Rathke\u2019s pouch. Pathogenic variants in BMP4 are reported in the literature with a broad phenotypic spectrum, including pituitary and brain malformations. Case Presentation. A five-year-old girl came to medical attention following a mild cervical trauma with onset of cervical pain. On clinical examination at birth, postaxial polydactyly type B of the left hand was observed and removed at 10 months of age. A cervical radiography was performed, and a suspicion of craniocervical junction malformation was made. A magnetic resonance imaging of the cervical spine was made, showing an ectopic posterior pituitary, associated with dysmorphism of the craniocervical junction. The anthropometric parameters were pubertal Tanner stage 1, weight 16\u2009kg (z-score: \u22121.09), height 107\u2009cm (z-score: \u22120.76), and BMI 14\u2009kg\/m2 (z-score: \u22120.92). Normal hormonal assessment was detected. Genetic analysis via next generation sequencing showed a novel de novo heterozygous variant (c.277\u2009G\u2009&gt;\u2009T, p.Glu93<jats:inline-formula>\n                     <a:math xmlns:a=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\">\n                        <a:msup>\n                           <a:mrow\/>\n                           <a:mrow>\n                              <a:mi>\u2217<\/a:mi>\n                           <\/a:mrow>\n                        <\/a:msup>\n                     <\/a:math>\n                  <\/jats:inline-formula>) in exon 3 of BMP4. Discussion. We described a novel mutation in BMP4, resulting in ectopic posterior pituitary with normal hormonal assessment, associated to craniocervical junction dysmorphism and limb anomaly. It is important to monitor patient\u2019s growth and puberty and to screen the onset of symptoms related to the deficiency of one or more anterior as well as posterior pituitary hormones.<\/jats:p>","DOI":"10.1155\/2022\/8059409","type":"journal-article","created":{"date-parts":[[2022,5,19]],"date-time":"2022-05-19T20:50:09Z","timestamp":1652993409000},"page":"1-4","source":"Crossref","is-referenced-by-count":1,"title":["Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly"],"prefix":"10.1155","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2137-5974","authenticated-orcid":true,"given":"Valeria","family":"Calcaterra","sequence":"first","affiliation":[{"name":"Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, Pavia, Italy"},{"name":"Department of Pediatrics, Pediatric Unit, \u201cVittore Buzzi\u201d Children\u2019s Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rossella","family":"Lamberti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Unit, \u201cVittore Buzzi\u201d Children\u2019s Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Viggiano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Unit, \u201cVittore Buzzi\u201d Children\u2019s Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Baldassarre","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Unit, \u201cVittore Buzzi\u201d Children\u2019s Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigina","family":"Spaccini","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Obstetrics and Gynecology, \u201cV. Buzzi\u201d Children's Hospital, University of Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa Maria","family":"Alfano","sequence":"additional","affiliation":[{"name":"Human Pathology, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giana","family":"Izzo","sequence":"additional","affiliation":[{"name":"Pediatric Radiology and Neuroradiology Unit, \u201cVittore Buzzi\u201d Children\u2019s Hospital, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura Grazia","family":"Valentini","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianvincenzo","family":"Zuccotti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Unit, \u201cVittore Buzzi\u201d Children\u2019s Hospital, Milan, Italy"},{"name":"Department of Biomedical and Clinical Science \u201cL. Sacco\u201d, University of Milan, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1002\/cphy.c150043"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1159\/000341733"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-416021-7.00001-8"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1210\/er.2009-0008"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1159\/000053243"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1530\/joe-12-0229"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2007.07.007"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1101\/gad.12.11.1691"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1101\/gad.9.17.2105"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-01977-y"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0423-4"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1159\/000094262"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1016\/j.gendis.2014.07.005"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1101\/gad.904601"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2010.10.003"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-10-109"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1997.8664"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.08.024"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-2-18"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32519"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1949-1"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.769636"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.023"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-69-821-402"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61201"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2022\/8059409.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2022\/8059409.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2022\/8059409.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,19]],"date-time":"2022-05-19T20:50:11Z","timestamp":1652993411000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/cripe\/2022\/8059409\/"}},"subtitle":[],"editor":[{"given":"Isolina","family":"Ria\u00f1o Gal\u00e1n","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2022,5,19]]},"references-count":26,"alternative-id":["8059409","8059409"],"URL":"https:\/\/doi.org\/10.1155\/2022\/8059409","relation":{},"ISSN":["2090-6811","2090-6803"],"issn-type":[{"type":"electronic","value":"2090-6811"},{"type":"print","value":"2090-6803"}],"subject":[],"published":{"date-parts":[[2022,5,19]]}}}