{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:21:24Z","timestamp":1790626884526,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,7,7]],"date-time":"2017-07-07T00:00:00Z","timestamp":1499385600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the <jats:italic>PAX3<\/jats:italic> homeodomain. <jats:italic>PAX3<\/jats:italic> variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, the role of <jats:italic>PAX3<\/jats:italic> in human neural tube formation remains a study of interest, for clinical as well as research purposes. Though the association between spina bifida and WS1 is now well\u2010documented, no study has attempted to characterize the range of spina bifida phenotypes seen in WS. Spina bifida encompasses several diagnoses with a wide scope of clinical severity, ranging from spina bifida occulta to myelomeningocele. We present a patient with Waardenburg syndrome type 1 caused by a novel missense variant in <jats:italic>PAX3<\/jats:italic>, presenting with myelomeningocele, Arnold\u2010Chiari malformation, and hydrocephalus at birth. Additionally, we review 32 total cases of neural tube defects associated with WS. Including this report, there have been 15 published cases of myelomeningocele, 10 cases of unspecified spina bifida, 3 cases of sacral dimples, 0 cases of meningocele, and 4 cases of miscellaneous other neural tube defects. Though the true frequency of each phenotype cannot be determined from this collection of cases, these results demonstrate that Waardenburg syndrome type 1 carries a notable risk of severe neural tube defects, which has implications in prenatal and genetic counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38325","type":"journal-article","created":{"date-parts":[[2017,7,7]],"date-time":"2017-07-07T14:22:37Z","timestamp":1499437357000},"page":"2472-2477","source":"Crossref","is-referenced-by-count":39,"title":["Neural tube defects in Waardenburg syndrome: A case report and review of the literature"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5723-1123","authenticated-orcid":false,"given":"Joseph","family":"Hart","sequence":"first","affiliation":[{"name":"Joan C Edwards School of Medicine Marshall University Huntington West Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalpana","family":"Miriyala","sequence":"additional","affiliation":[{"name":"Joan C Edwards School of Medicine Marshall University Huntington West Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23163"},{"key":"e_1_2_6_4_1","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1097\/AOG.0b013e31819930b0","article-title":"ACOG practice nulletin no. 101: Ultrasonography in pregnancy","volume":"113","year":"2009","journal-title":"Obstetrics and Gynecology"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590227"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580205"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440434"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420127"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.1.83"},{"key":"e_1_2_6_10_1","first-page":"118","article-title":"Genetic models of mammalian neural tube defects","volume":"181","author":"Copp A. 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