{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T07:42:50Z","timestamp":1696664570315},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,2,23]],"date-time":"2015-02-23T00:00:00Z","timestamp":1424649600000},"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":[[2015,4]]},"abstract":"<jats:sec><jats:label \/><jats:p>In 1980, a novel multiple malformation syndrome has been described in a 17\u2010year\u2010old woman with micro\u2010 and turricephaly, intellectual disability, distinctive facial appearance, congenital atrichia, and multiple skeletal anomalies mainly affecting the limbs. Four further sporadic patients and a couple of affected sibs are also reported with a broad clinical variability. Here, we describe a 4\u2010year\u2010old girl strikingly resembling the original report. Phenotype comparison identified a recurrent pattern of multisystem features involving the central nervous system, and skin and bones in five sporadic patients (including ours), while the two sibs and a further sporadic case show significant phenotypic divergence. Marked clinical variability within the same entity versus syndrome splitting is discussed and the term \u201ccerebro\u2010dermato\u2010osseous dysplasia\u201d is introduced to define this condition. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36983","type":"journal-article","created":{"date-parts":[[2015,2,23]],"date-time":"2015-02-23T10:15:19Z","timestamp":1424686519000},"page":"842-851","source":"Crossref","is-referenced-by-count":1,"title":["Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro\u2010dermato\u2010osseous\u2010dysplasia"],"prefix":"10.1002","volume":"167","author":[{"given":"Marco","family":"Castori","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine Division of Medical Genetics Sapienza University San Camillo\u2010Forlanini Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Pascolini","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine Division of Medical Genetics Sapienza University San Camillo\u2010Forlanini Hospital Rome Italy"},{"name":"Department of Experimental Medicine Division of Medical Genetics Sapienza University Umberto I Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Parisi","sequence":"additional","affiliation":[{"name":"Mendel Laboratory Casa Sollievo della Sofferenza Hospital IRCCS San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Elena","family":"Sana","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics Papa Giovanni XXIII Hospital Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Mendel 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