{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T15:36:46Z","timestamp":1696606606210},"reference-count":10,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["PED"],"published-print":{"date-parts":[[2012,12]]},"abstract":"An otherwise healthy, developmentally normal 3-week-old male infant presented with complex multisuture craniosynostosis involving the metopic suture and bilateral coronal sutures with frontal prominence and hypotelorism. Frontal craniectomy and bilateral frontoorbital advancement remodeling were performed at the age of 5 months. The postoperative course was uneventful. The child's development was normal up to 8 months after the operation. His father and grandfather had similar specific deformities of the cranium, but no anomaly of the extremities was found, and conversation suggested that their intelligence was normal, excluding the possibility of syndromic craniosynostosis. A DNA analysis revealed large-scale copy number polymorphism of chromosome 4 in the patient and his family, which may include the phenotype of the cranium. Neither FGFR<\/jats:italic> mutation nor absence of a TWIST1<\/jats:italic> mutation in the sequence from 291 to 1087, which includes DNA binding, Helix1<\/jats:italic>, Loop<\/jats:italic>, and Helix2<\/jats:italic>, was identified. The patient apparently had a rare case of familial nonsyndromic craniosynostosis. The authors plan further genomic analysis of this family and long-term observation of the craniofacial deformity of this patient.<\/jats:p>","DOI":"10.3171\/2012.8.peds1259","type":"journal-article","created":{"date-parts":[[2012,10,5]],"date-time":"2012-10-05T17:19:57Z","timestamp":1349457597000},"page":"560-564","source":"Crossref","is-referenced-by-count":2,"title":["Familial nonsyndromic craniosynostosis with specific deformity of the cranium"],"prefix":"10.3171","volume":"10","author":[{"given":"Azusa","family":"Shimizu","sequence":"first","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery, Juntendo Shizuoka Hospital, Izunokuni, Shizuoka;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuzo","family":"Komuro","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery, Juntendo Urayasu Hospital, Urayasu, Chiba; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masakazu","family":"Miyajima","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Juntendo University School of Medicine, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hajime","family":"Arai","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Juntendo University School of Medicine, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1-peds1259","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"723","DOI":"10.3171\/jns.1962.19.9.0723","article-title":"Trigonocephaly. Identity and surgical treatment","volume":"19","author":"Anderson","year":"1962"},{"key":"b2-peds1259","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1038\/ng1096-174","article-title":"Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes","volume":"14","author":"Bellus","year":"1996"},{"key":"b3-peds1259","series-title":"Plast Reconstr Surg","doi-asserted-by":"publisher","first-page":"2085","DOI":"10.1097\/PRS.0b013e3181bf83ce","article-title":"The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome","volume":"124","author":"Foo","year":"2009"},{"key":"b4-peds1259","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"396","DOI":"10.3171\/jns.2002.97.2.0396","article-title":"A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia","volume":"97","author":"Fujisawa","year":"2002"},{"key":"b5-peds1259","series-title":"Intern Med","doi-asserted-by":"publisher","first-page":"297","DOI":"10.2169\/internalmedicine.50.4505","article-title":"Segmental copy number loss of SFMBT1 gene in elderly individuals with ventriculomegaly: a community-based study","volume":"50","author":"Kato","year":"2011"},{"key":"b6-peds1259","series-title":"Z Kinderheilk","first-page":"301","article-title":"[Dominant hereditary acrocephalosyndactylia.]","volume":"90","author":"Pfeiffer","year":"1964"},{"key":"b7-peds1259","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1038\/ng0994-98","article-title":"Mutations in the fibloblast growth factor receptor 2 gene cause Crouzon syndrome","volume":"8","author":"Reardon","year":"1994"},{"key":"b8-peds1259","series-title":"Science","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1126\/science.1098918","article-title":"Large-scale copy number polymorphism in the human genome","volume":"305","author":"Sebat","year":"2004"},{"key":"b9-peds1259","series-title":"Pediatrics","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1542\/peds.41.4.829","article-title":"Craniosynostosis: a review of 519 surgical patients","volume":"41","author":"Shillito","year":"1968"},{"key":"b10-peds1259","series-title":"Disorders of the Developing Nervous System: Diagnosis and Treatment","first-page":"323","article-title":"Craniosynostosis","author":"Simpson","year":"1986"}],"container-title":["Journal of Neurosurgery: Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/10\/6\/article-p560.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/10\/6\/article-p560.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/10\/6\/article-p560.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,15]],"date-time":"2023-04-15T14:34:07Z","timestamp":1681569247000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/10\/6\/article-p560.xml"}},"subtitle":["Case report"],"short-title":[],"issued":{"date-parts":[[2012,12]]},"references-count":10,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.3171\/2012.8.peds1259","relation":{},"ISSN":["1933-0707","1933-0715"],"issn-type":[{"value":"1933-0707","type":"print"},{"value":"1933-0715","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12]]}}}