{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:04:00Z","timestamp":1777802640830,"version":"3.51.4"},"reference-count":14,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2007,11,1]],"date-time":"2007-11-01T00:00:00Z","timestamp":1193875200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:p>We describe a child with bilateral anophthalmia, limb anomalies, skin lesions, cerebral malformations, epilepsy, and mental retardation. This patient, according to eponymous classification, should fit into the Anophthalmia-Waardenburg syndrome, although he also presents cutaneous and cerebral manifestations never reported in this syndrome until now. These clinical findings could be explained by the new classification of brain malformations, which takes into account the role of neural crest in Waardenburg syndrome.<\/jats:p>","DOI":"10.1177\/0883073807307100","type":"journal-article","created":{"date-parts":[[2007,11,15]],"date-time":"2007-11-15T19:25:17Z","timestamp":1195154717000},"page":"1252-1255","source":"Crossref","is-referenced-by-count":5,"title":["Anophthalmia-Waardenburg Syndrome With Expanding Phenotype: Does Neural Crest Play a Role?"],"prefix":"10.1177","volume":"22","author":[{"given":"Cinzia","family":"Galasso","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Pediatric Neurology Section, Tor Vergata University, Rome, Italy,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Bombardieri","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Pediatric Neurology Section, Tor Vergata University, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caterina","family":"Cerminara","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Pediatric Neurology Section, Tor Vergata University, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Stranci","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatric Section, University of Palermo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Curatolo","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Pediatric Neurology Section, Tor Vergata University, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2007,11,1]]},"reference":[{"key":"atypb1","volume-title":"Genetics and ophthalmology","author":"Waardenburg PJ","year":"1961","edition":"1"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140403"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.3109\/13816818409009889"},{"key":"atypb4","first-page":"90","volume":"17","author":"Tekin M.","year":"2000","journal-title":"Am J Med Genet."},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000117)90:2<173::AID-AJMG17>3.0.CO;2-N"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.4314\/eamj.v79i6.8856"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1002\/pd.331"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1007\/s003359900832"},{"key":"atypb9","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1093\/genetics\/164.3.1035","volume":"164","author":"Graw J.","year":"2003","journal-title":"Genetics"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.25.3231"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10154"},{"key":"atypb12","first-page":"223","volume":"13","author":"Wissers W.","year":"2003","journal-title":"Eur J Dermatol."},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1177\/08830738050200080101"},{"key":"atypb14","unstructured":"Sarnat HB, Sarnat LF Embryological basis of the neurocutaneous syndromes. 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