{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,4]],"date-time":"2025-05-04T01:15:49Z","timestamp":1746321349347,"version":"3.32.0"},"reference-count":33,"publisher":"Elsevier BV","issue":"04","license":[{"start":{"date-parts":[[2023,12,4]],"date-time":"2023-12-04T00:00:00Z","timestamp":1701648000000},"content-version":"vor","delay-in-days":3,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Glob Med Genet"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Microtia is an uncommon congenital malformation ranging from mild anatomic structural abnormalities to partial or complete absence of the ear leading to hearing impairment. Congenital microtia may present as a single malformation (isolated microtia) or sometimes associated with other congenital anomalies involving various organs. Microtia has been classified in three degrees according to the complexity of the auricular malformation and to anotia referred to the total absence of the ear. Genetic role in causing auricular malformation has been widely demonstrated, and genotype\u2013phenotype correlation has been reported in cases of syndromic microtia.<\/jats:p><jats:p>\n          Case Presentation\u2003We report here a young patient with a third degree of scale classification and aural atresia. The patient showed unspecific facial dysmorphism, speech delay, precocious teething, hair white patch, and stereotypic anomalous movements. Genetic analysis displayed a de novo 16p13.11 deletion.<\/jats:p><jats:p>\n          Conclusion\u2003Microtia with aural atresia is an uncommon and severe birth defect, which affects functional and esthetic aspects, often associated with other malformations. As traumatic this disorder may be for the parents, the microtia and aural atresia are treatable, thanks to the improving and evolving surgical techniques. Based on the genetic analysis and the clinical features observed in the present case, a genotype\u2013phenotype correlation has been proposed.<\/jats:p>","DOI":"10.1055\/s-0043-1777362","type":"journal-article","created":{"date-parts":[[2023,12,5]],"date-time":"2023-12-05T00:48:22Z","timestamp":1701737302000},"page":"370-375","source":"Crossref","is-referenced-by-count":1,"title":["Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype\u2013Phenotype Correlation"],"prefix":"10.1016","volume":"10","author":[{"given":"Piero","family":"Pavone","sequence":"additional","affiliation":[{"name":"Section of Paediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xena Giada","family":"Pappalardo","sequence":"additional","affiliation":[{"name":"Unit of Catania, Institute for Biomedical Research and Innovation, National Council of Research, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Parano","sequence":"additional","affiliation":[{"name":"Department of General Surgery and Medical-Surgical Specialties, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Parano","sequence":"additional","affiliation":[{"name":"Unit of Catania, Institute for Biomedical Research and Innovation, National Council of Research, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Corsello","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Department of Sciences for Health Promotion, Maternal Infant Care, Internal Medicine and Medical Specialties \u201cG. D'Alessandro,\u201d University Hospital \u201cP. Giaccone,\u201d Palermo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martino","family":"Ruggieri","sequence":"additional","affiliation":[{"name":"Section of Paediatrics and Child Neuropsychiatry, Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Cacciaguerra","sequence":"additional","affiliation":[{"name":"Section of Paediatrics and Child Neuropsychiatry, Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaele","family":"Falsaperla","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, AUO Policlinico \u201cRodolico-San Marco,\u201d University of Catania, Catania, Italy"},{"name":"Acute End Emergency Pediatric Unit, Department of General Pediatrics, AUO Policlinico \u201cRodolico-San Marco,\u201d University of Catania, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","published-online":{"date-parts":[[2023,12,4]]},"reference":[{"issue":"06","key":"ref1","first-page":"1233","article-title":"Ear malformations. 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