{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:47:32Z","timestamp":1791978452731,"version":"4.4.0"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T00:00:00Z","timestamp":1696377600000},"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":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Matthew\u2010Wood syndrome (MWS) is a rare autosomal recessive disorder caused by pathogenic variants of the <jats:italic>STRA6<\/jats:italic> gene. Several studies in the available literature comprise patients with pathogenic variants of gene <jats:italic>STRA6<\/jats:italic> with various phenotypic expressions: from lethal forms of MWS to non\u2010lethal anophthalmia. These reports mainly describe new pathogenic variants and phenotypic expression but do not describe medical or paramedical care for the affected families. In our case report, we describe the second case of MWS in the same family and the benefits of including the patient's family in the perinatal palliative care program. The first pregnancy was terminated with a cesarean section; the boy was intubated in the delivery room and died soon after. The mother was not allowed to say farewell or keep any remembrances of her child. In the second pregnancy, the family was involved in the perinatal palliative care program, and all paramedical aspects, crucial from the parent's perspective, were planned and implemented. Palliative perinatal care enables complex care for the pregnant woman and her family. The possibility of palliative perinatal care is significant in decision\u2010making in families with a high risk of lethal disease in subsequent pregnancies.<\/jats:p>","DOI":"10.1002\/jgc4.1808","type":"journal-article","created":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T17:39:19Z","timestamp":1696441159000},"page":"927-930","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Perinatal palliative care for family with prenatal diagnosis of <scp>Matthew\u2010Wood<\/scp> syndrome"],"prefix":"10.1002","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1889-460X","authenticated-orcid":false,"given":"Aleksandra","family":"Korzeniewska\u2010Eksterowicz","sequence":"first","affiliation":[{"name":"Pediatric Palliative Care Unit, Department of Pediatrics, Oncology and Hematology Medical University of Lodz  Lodz Poland"},{"name":"Pediatric Palliative Care Center Gajusz Foundation  Lodz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Moczulska","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Medical University of Lodz  Lodz Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,10,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.26106"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21023"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31788"},{"issue":"3","key":"e_1_2_9_5_1","first-page":"405","article-title":"Matthew\u2010wood syndrome: A case with dextrocardia and streak gonads","volume":"27","author":"Cubuk P.","year":"2016","journal-title":"Genetic Counseling"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/518177"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37389"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2019\u20103146"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/2333794X19854941"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23465"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedn.2020.04.006"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgc4.1808","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T06:29:24Z","timestamp":1723444164000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jgc4.1808"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,4]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1002\/jgc4.1808"],"URL":"https:\/\/doi.org\/10.1002\/jgc4.1808","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,4]]},"assertion":[{"value":"2021-11-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}