{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:53:54Z","timestamp":1789764834430,"version":"4.0.1"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,6,25]],"date-time":"2015-06-25T00:00:00Z","timestamp":1435190400000},"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":[[2015,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Teebi hypertelorism syndrome is a rare autosomal dominant disorder that has eluded a molecular etiology since first described in 1987. Here we report on two unrelated families with a Teebi hypertelorism\u2010like syndrome and Teebi hypertelorism phenotype who have missense mutations in <jats:italic>Sperm Antigen With Calponin Homology And Coiled\u2010Coil Domains<\/jats:italic> (<jats:italic>SPECC1L<\/jats:italic>), previously associated with oblique facial clefting and Opitz G\/BBB syndrome. The first patient and his affected mother were previously\u2010reported by Hoffman et al. in this journal as a new syndrome resembling Teebi hypertelorism and Aarskog syndromes in 2007. This patient had hypertelorism, sagittal and coronal craniosynostosis, ptosis, natal teeth, unusual umbilicus, shawl scrotum, small hands, and feet, with grossly normal development. Our second patient had classic Teebi hypertelorism syndrome with hypertelorism and a giant umbilical hernia. Patient one and his affected mother had a c.1260G&gt;C:p.E420D variant and patient two had a de novo c.1198_1203delATACAC:p.I400_H401del variant in <jats:italic>SPECC1L<\/jats:italic>. We review the phenotypic findings in the previously\u2010published Teebi hypertelorism syndrome patients, and the Opitz G\/BBB patients with <jats:italic>SPECC1L<\/jats:italic> mutations. In addition we emphasize the findings of aortic root dilation and craniosynostosis in these patients, which should be considered in their management. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37217","type":"journal-article","created":{"date-parts":[[2015,6,25]],"date-time":"2015-06-25T13:03:28Z","timestamp":1435237408000},"page":"2497-2502","source":"Crossref","is-referenced-by-count":36,"title":["Expanding the <i>SPECC1L<\/i> mutation phenotypic spectrum to include Teebi hypertelorism syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Elizabeth J.","family":"Bhoj","sequence":"first","affiliation":[{"name":"Department of Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia  Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia  Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret H.","family":"Harr","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lifeng","family":"Tian","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia  Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiancheng","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia  Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia  Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haijun","family":"Qiu","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia  Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Kim","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia  Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jodi D.","family":"Hoffman","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics Boston Medical Center Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakon","family":"Hakonarson","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia  Pennsylvania"},{"name":"Department of Pediatrics The Perelman School of Medicine 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