{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,19]],"date-time":"2026-07-19T01:52:47Z","timestamp":1784425967973,"version":"3.55.0"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,8,15]],"date-time":"2002-08-15T00:00:00Z","timestamp":1029369600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Funda\u00e7\u00e3o de Amparo a Pesquisa do Estado de S\u00e3o Paulo"},{"name":"Conselho Nacional de Pesquisa e Desenvolvimento"},{"name":"Programa dos N\u00facleos de Excel\u00eancia"},{"DOI":"10.13039\/100000011","name":"Howard Hughes Medical Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000011","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,11,22]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Craniosynostosis caused by genetic factors includes a heterogeneous group of over 100 syndromes, most with autosomal dominant inheritance. Mutations in five genes (<jats:italic>FGFR1\u2010<\/jats:italic>, <jats:italic>\u22122<\/jats:italic>, <jats:italic>\u22123<\/jats:italic>, <jats:italic>TWIST<\/jats:italic>, and <jats:italic>MSX2<\/jats:italic>) causing craniosynostosis as the main clinical feature were described. In most of these conditions, there are also limb malformations. We report a two\u2010generation kindred segregating microcornea, optic nerve alterations and cataract since childhood, craniosynostosis, and distal limb alterations, with a great clinical intrafamilial variability. The ophthalmological problems here described seem to be unique to this genealogy while similar feet alterations were apparently only described in two other affected siblings with acro\u2010cranial\u2010facial dysostosis syndrome (ADS). However, ADS has an autosomal recessive inheritance instead of the dominant pattern of the present genealogy. The candidate exons of the five genes previously mentioned were tested through sequencing analysis presenting normal results in all cases. Therefore, clinical and laboratory analyses in our patients suggest that their phenotype represents a new syndrome very likely caused by mutation in a gene different from those studied. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10752","type":"journal-article","created":{"date-parts":[[2002,10,30]],"date-time":"2002-10-30T14:19:03Z","timestamp":1035987543000},"page":"200-206","source":"Crossref","is-referenced-by-count":3,"title":["Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from <i>FGFR<\/i>, <i>TWIST<\/i>, and <i>MSX2<\/i>"],"prefix":"10.1002","volume":"113","author":[{"given":"Maria Rita","family":"Passos\u2010Bueno","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia Maria","family":"Armelin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu\u00eds Garcia","family":"Alonso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isaac","family":"Neustein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9a L.","family":"Serti\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kikue","family":"Abe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita de C\u00e1ssia","family":"Pavanello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00edvia C.","family":"Elkis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9lia 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