{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T21:05:08Z","timestamp":1789679108754,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4314,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of similar appearance, and nasal papillomata, suggesting the existence of a previously undescribed syndrome of uncertain familial nature [Costello, Aust Paediatr J 13: 114\u2013118, 1977]. The existence of this syndrome as a separate entity was substantiated several years later by two additional reports by Der Kaloustian et al. [Am J Med Genet 43:678\u2013685, 1991] and Martin and Jones [Am J Med Genet 41:346\u2013349, 1991]. More recently Borochowitz et al. [Am J Med Genet 43:678\u2013685,1992] described a new \u201cmultiple congenital anomalies\/mental retardation syndrome with facio\u2010cutaneous\u2010skeletal involvement.\u201d Whether this condition should be considered separately from the Costello syndrome is currently a matter of debate. We present three cases, two of whom are sibs, who support the identity of the two syndromes.<\/jats:p><jats:p>Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely autosomal recessive. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470210","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:33:25Z","timestamp":1118507605000},"page":"176-183","source":"Crossref","is-referenced-by-count":88,"title":["Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology"],"prefix":"10.1002","volume":"47","author":[{"given":"Giuseppe","family":"Zampino","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierpaolo","family":"Mastroiacovo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Ricci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcella","family":"Zollino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Segni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Enrica","family":"Martini\u2010Neri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Neri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007611-197708000-00031"},{"key":"e_1_2_1_3_1","unstructured":"BerberichMS CareyJC HallBH(1990):Resolution of the perinatal and infantile failure to thrive in a new autosomal recessive syndrome with the phenotype of a storage disorder and furrowing of palmar creases. The 11th D. W. Smith Workshop on Malformation and Morphogenesis Lexington Kentucky p.77."},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430405"},{"key":"e_1_2_1_5_1","first-page":"221","article-title":"Un syndrome poly\u2010dysmorphique rare: Le leprechaunisme\u2014revue des quarante\u2010neuf cas publi\u00e9s dans la litt\u00e9rature","volume":"30","author":"Cantani A","year":"1987","journal-title":"Ann Genet"},{"key":"e_1_2_1_6_1","first-page":"114","article-title":"A new syndrome: Mental subnormality and nasal papillomata","volume":"13","author":"Costello JM","year":"1977","journal-title":"Aust Paediatr J"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.4.294"},{"key":"e_1_2_1_8_1","unstructured":"Der KaloustianVM(1993): Letter to the Editor. 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