{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:33:03Z","timestamp":1740126783183,"version":"3.37.3"},"reference-count":31,"publisher":"Georg Thieme Verlag KG","issue":"05","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5\u2009Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype.<\/jats:p>","DOI":"10.1055\/s-0039-3402009","type":"journal-article","created":{"date-parts":[[2020,2,3]],"date-time":"2020-02-03T23:57:23Z","timestamp":1580774243000},"page":"359-363","source":"Crossref","is-referenced-by-count":5,"title":["Poland Syndrome with Atypical Malformations Associated to a de novo 1.5\u2009Mb Xp22.31 Duplication"],"prefix":"10.1055","volume":"51","author":[{"given":"Carmela R.","family":"Massimino","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, CT, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierluigi","family":"Smilari","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, CT, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo","family":"Greco","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, CT, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Marino","sequence":"additional","affiliation":[{"name":"University-Hospital \u201cPoliclinico-Vittorio Emanuele,\u201d University of Catania, Catania, CT, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Vecchio","sequence":"additional","affiliation":[{"name":"Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Ges\u00f9 Children's Hospital, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Bartuli","sequence":"additional","affiliation":[{"name":"Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Ges\u00f9 Children's Hospital, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pasquale","family":"Parisi","sequence":"additional","affiliation":[{"name":"Child Neurology, Chair of Pediatrics, NESMOS Department, Faculty of Medicine & Psychology, Sapienza University, c\/o Sant\u2019 Andrea Hospital, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung Y.","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5600-9560","authenticated-orcid":false,"given":"Piero","family":"Pavone","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, CT, Italy"},{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2020,2,3]]},"reference":[{"issue":"02","key":"ref1","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1159\/000152560","article-title":"The Poland syndrome-clinical and genealogical data, dermatoglyphic analysis, and incidence","volume":"23","author":"N Freire-Maia","year":"1973","journal-title":"Hum 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