{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T10:21:49Z","timestamp":1768818109568,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,9,24]],"date-time":"2021-09-24T00:00:00Z","timestamp":1632441600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital combined vitamin K\u2010dependent clotting factors deficiency (VKCFD) is a rare autosomal recessive disease resulting in hemorrhagic symptoms usually associated with developmental disorders and bone abnormalities. Pathogenic variants in two genes encoding enzymes of the vitamin K cycle, <jats:italic>GGCX<\/jats:italic> and <jats:italic>VKORC1<\/jats:italic>, can lead to this disorder. We present the case of a male fetus with a brachytelephalangic chondrodysplasia punctata (CDP), absence of nasal bone, growth restriction, and bilateral ventriculomegaly at 18\u2009weeks of gestation. Pathological examination showed a Binder phenotype, hypoplastic distal phalanges, stippled epiphyses, and brain abnormalities suggestive of a brain hemorrhage. Two <jats:italic>GGCX<\/jats:italic> pathogenic variants inherited respectively from the mother and the father were identified. To our knowledge, this is the first prenatal description of VKCFD. Even if it remains a rare etiology, which is mostly described in children or adult patients, VKCFD should be considered in fetuses with CDP.<\/jats:p>","DOI":"10.1002\/ajmg.a.62503","type":"journal-article","created":{"date-parts":[[2021,9,24]],"date-time":"2021-09-24T23:03:28Z","timestamp":1632524608000},"page":"314-318","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp><i>GGCX<\/i><\/scp>\u2010related congenital combined vitamin K\u2010dependent clotting factors deficiency\u20101: Description of a fetus with chondrodysplasia punctata"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6924-7947","authenticated-orcid":false,"given":"Alix","family":"Mathonnet","sequence":"first","affiliation":[{"name":"Hospices Civils de Lyon Centre Pluridisciplinaire de Diagnostic Pr\u00e9natal, Centre Hospitalier Lyon Sud  Pierre B\u00e9nite France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9verine","family":"Cunat","sequence":"additional","affiliation":[{"name":"D\u00e9partement d'H\u00e9matologie Biologique H\u00f4pital Saint Eloi, Centre Hospitalier Universitaire de Montpellier  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabienne","family":"Allias","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, Service d'Anatomo\u2010Pathologie Centre Hospitalier Lyon Sud  Pierre B\u00e9nite France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandrine","family":"Caillot","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon Centre Pluridisciplinaire de Diagnostic Pr\u00e9natal, Centre Hospitalier Lyon Sud  Pierre B\u00e9nite France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyrielle","family":"Thonnon","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon Centre Pluridisciplinaire de Diagnostic Pr\u00e9natal, Centre Hospitalier Lyon Sud  Pierre B\u00e9nite France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne","family":"Till","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, Service de G\u00e9n\u00e9tique Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Centre de Comp\u00e9tence Maladies Osseuses Constitutionnelles, Groupement Hospitalier Est  Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tania","family":"Atti\u00e9\u2010Bitach","sequence":"additional","affiliation":[{"name":"Service d'Histologie\u2010Embryologie\u2010Cytogenetique H\u00f4pital Necker\u2010Enfants Malades, Assistance Publique\u2010H\u00f4pitaux de Paris  Paris France"},{"name":"INSERM UMR1163, Imagine Institute Universit\u00e9 de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renaud","family":"Touraine","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique H\u00f4pital Nord  Saint Etienne France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandrine","family":"Meunier","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, Unit\u00e9 d'H\u00e9mostase Clinique Centre de R\u00e9f\u00e9rence Maladies H\u00e9morragiques Constitutionnelles (CR\u2010MHC), H\u00f4pital Cardiologique  Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charline","family":"Cartellier","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon Centre Pluridisciplinaire de Diagnostic Pr\u00e9natal, H\u00f4pital Femme M\u00e8re Enfant  Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5797-8152","authenticated-orcid":false,"given":"Massimiliano","family":"Rossi","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, Service de G\u00e9n\u00e9tique Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Centre de Comp\u00e9tence Maladies Osseuses Constitutionnelles, Groupement Hospitalier Est  Bron France"},{"name":"\u00c9quipe GENDEV, Centre de Recherche en Neurosciences de Lyon INSERM U1028 CNRS UMR5292, Universit\u00e9 Claude Bernard Lyon 1  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jocelyne","family":"Attia","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon Centre Pluridisciplinaire de Diagnostic Pr\u00e9natal, Centre Hospitalier Lyon Sud  Pierre B\u00e9nite France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5496-4604","authenticated-orcid":false,"given":"Audrey","family":"Putoux","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, Service de G\u00e9n\u00e9tique Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Centre de Comp\u00e9tence Maladies Osseuses Constitutionnelles, Groupement Hospitalier Est  Bron France"},{"name":"\u00c9quipe GENDEV, Centre de Recherche en Neurosciences de Lyon INSERM U1028 CNRS UMR5292, Universit\u00e9 Claude Bernard Lyon 1  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,9,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S150982"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-018-4098-8"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1225766"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V92.12.4554"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0378-3782(93)90172-Q"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18020240"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2020006329"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-05-782367"},{"issue":"2","key":"e_1_2_9_10_1","first-page":"182","article-title":"Pseudoxanthoma elasticum and a coagulation defect","volume":"84","author":"MacMillan D. C.","year":"1971","journal-title":"The British Journal of Dermatology"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-21"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)61490-2"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1975.tb00710.x"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature02214"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-29616-y"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-10-677633"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700610"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.thromres.2014.07.004"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62503","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62503","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62503","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T19:06:05Z","timestamp":1692558365000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,24]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1002\/ajmg.a.62503"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62503","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,24]]},"assertion":[{"value":"2021-03-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}