{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:50:47Z","timestamp":1788306647183,"version":"build-2803163510"},"reference-count":22,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,10,15]],"date-time":"2021-10-15T00:00:00Z","timestamp":1634256000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004391","name":"China Medical University Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004391","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p><jats:bold>Introduction:<\/jats:bold> Factor VII deficiency is a rare inherited autosomal recessive bleeding disorder with a global prevalence of 1\/500,000. Most cases remain asymptomatic, and cases with severe clinical presentation are rarely reported.<\/jats:p><jats:p><jats:bold>Case Presentation:<\/jats:bold> A newborn male with no relevant maternal antenatal history, delivered <jats:italic>via<\/jats:italic> vacuum-assisted cesarean section, presented with a large cephalohematoma after delivery. Poor appetite, pale appearance, and bulging fontanelles were observed 2 days later, progressing to hypovolemic shock. Further imaging examination revealed a large intracranial hemorrhage. Serial laboratory examination revealed remarkable coagulopathy with prolonged prothrombin time and factor VII deficiency (&amp;lt;1%, severe type). The patient was genetically confirmed to have the FVII:c 681+1 G&amp;gt;T homozygous mutation. Brain hemorrhage was resolved with high-dose factor VII replacement therapy with recombinant activated factor VII. However, repeated hemothorax and intracranial hemorrhage were detected. Therefore, the patient was under regular factor VII supplementation with a rehabilitation program for cerebral palsy.<\/jats:p><jats:p><jats:bold>Conclusions:<\/jats:bold> A case of factor VII deficiency with large cephalohematoma and intracranial hemorrhage after birth is described herein, which was treated with high-dose replacement therapy. Variants of the FVII:c 681+1 G&amp;gt;T (IVS6+1G&amp;gt;T) homozygous genotype may present with a severe phenotype at the neonatal stage. We aim to share a unique neonatal presentation with a certain genotype and treatment experience with initial replacement therapy, followed by regular prophylactic dosage.<\/jats:p>","DOI":"10.3389\/fped.2021.755121","type":"journal-article","created":{"date-parts":[[2021,10,15]],"date-time":"2021-10-15T10:32:11Z","timestamp":1634293931000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case Report: Factor VII Deficiency Presented With Cephalohematoma After Birth"],"prefix":"10.3389","volume":"9","author":[{"given":"Yuan-Chun","family":"Lo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ching-Tien","family":"Peng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yin-Ting","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,10,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"913","DOI":"10.3345\/kjp.2010.53.10.913","article-title":"A case of intracranial hemorrhage in a neonate with congenital factor VII deficiency","volume":"53","author":"Lee","year":"2010","journal-title":"Korean J Pediatr."},{"key":"B2","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1177\/1076029616670257","article-title":"Factor VII deficiency: from basics to clinical laboratory diagnosis and patient management","volume":"23","author":"Sevenet","year":"2017","journal-title":"Clin Appl Thromb Hemost."},{"key":"B3","doi-asserted-by":"publisher","first-page":"38","DOI":"10.3390\/jcm6040038","article-title":"Factor VII deficiency: clinical phenotype, genotype and therapy","volume":"6","author":"Napolitano","year":"2017","journal-title":"J Clin Med"},{"key":"B4","doi-asserted-by":"publisher","first-page":"37","DOI":"10.2147\/TACG.S139788","article-title":"Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children","volume":"10","author":"Traivaree","year":"2017","journal-title":"Appl Clin Genet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"e417","DOI":"10.1111\/hae.13047","article-title":"Inhibitor development after liver transplantation in congenital factor VII deficiency","volume":"22","author":"See","year":"2016","journal-title":"Haemophilia."},{"key":"B6","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1097\/MBC.0000000000000279","article-title":"Phenotypic and genotypic characterization of four factor VII deficiency patients from central China","volume":"26","author":"Liu","year":"2015","journal-title":"Blood Coagul Fibrinolysis."},{"key":"B7","doi-asserted-by":"publisher","first-page":"1109","DOI":"10.1016\/j.bbadis.2012.03.001","article-title":"Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant","volume":"1822","author":"Cavallari","year":"2012","journal-title":"Biochim Biophys Acta."},{"key":"B8","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1111\/j.1365-2516.2008.01910.x","article-title":"Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene","volume":"15","author":"Herrmann","year":"2009","journal-title":"Haemophilia."},{"key":"B9","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1007\/s004390000373","article-title":"Molecular analysis of the genotype-phenotype relationship in factor VII deficiency","volume":"107","author":"Millar","year":"2000","journal-title":"Hum Genet."},{"key":"B10","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1055\/s-0037-1614004","article-title":"Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency","volume":"84","author":"Peyvandi","year":"2000","journal-title":"Thromb Haemost."},{"key":"B11","doi-asserted-by":"publisher","first-page":"3036","DOI":"10.3390\/ijms20123036","article-title":"Molecular mechanisms and determinants of innovative correction approaches in coagulation factor deficiencies","volume":"20","author":"Balestra","year":"2019","journal-title":"Int J Mol Sci"},{"key":"B12","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1160\/TH04-10-0650","article-title":"Clinical phenotypes and factor VII genotype in congenital factor VII deficiency","volume":"93","author":"Mariani","year":"2005","journal-title":"Thromb Haemost."},{"key":"B13","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1111\/ped.12255","article-title":"Intracranial hemorrhage in infants with cephalohematoma","volume":"56","author":"Kim","year":"2014","journal-title":"Pediatr Int."},{"key":"B14","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1111\/j.1365-2141.2011.08967.x","article-title":"Neonatal bleeding in haemophilia: a European cohort study","volume":"156","author":"Richards","year":"2012","journal-title":"Br J Haematol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"1082","DOI":"10.3174\/ajnr.A1004","article-title":"Prevalence and evolution of intracranial hemorrhage in asymptomatic term infants","volume":"29","author":"Rooks","year":"2008","journal-title":"AJNR Am J Neuroradiol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1007\/s00540-011-1276-3","article-title":"A case of acquired hemophilia A with massive hemothorax","volume":"26","author":"Fukushima","year":"2012","journal-title":"J Anesth."},{"key":"B17","first-page":"547","article-title":"Successful treatment of hemothorax with recombinant factor VIIa in a hemophilic child with inhibitor","volume":"44","author":"Hul\u00edkov\u00e1","year":"1998","journal-title":"Vnitr Lek."},{"key":"B18","doi-asserted-by":"publisher","first-page":"812","DOI":"10.1111\/hae.12702","article-title":"Long-term prophylaxis in severe factor VII deficiency","volume":"21","author":"Siboni","year":"2015","journal-title":"Haemophilia."},{"key":"B19","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1055\/s-0029-1225762","article-title":"Factor VII Deficiency","volume":"35","author":"Mariani","year":"2009","journal-title":"Semin Thromb Hemost."},{"key":"B20","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1182\/blood-2018-06-820738","article-title":"Treatment of rare factor deficiencies other than hemophilia","volume":"133","author":"Menegatti","year":"2019","journal-title":"Blood."},{"key":"B21","doi-asserted-by":"publisher","first-page":"1170","DOI":"10.1111\/j.1365-2516.2008.01844.x","article-title":"International registry on congenital factor VIID. Factor VII deficiency: defining the clinical picture and optimizing therapeutic options","volume":"14","author":"Lapecorella","year":"2008","journal-title":"Haemophilia."},{"key":"B22","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1111\/j.1365-2516.2011.02596.x","article-title":"rFVIIa administered by continuous infusion during surgery in patients with severe congenital FVII deficiency","volume":"17","author":"Tran","year":"2011","journal-title":"Haemophilia."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.755121\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,15]],"date-time":"2021-10-15T10:32:18Z","timestamp":1634293938000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.755121\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,15]]},"references-count":22,"alternative-id":["10.3389\/fped.2021.755121"],"URL":"https:\/\/doi.org\/10.3389\/fped.2021.755121","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,15]]},"article-number":"755121"}}