{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T01:20:03Z","timestamp":1788916803636,"version":"build-2803163510"},"reference-count":38,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,3,12]],"date-time":"2016-03-12T00:00:00Z","timestamp":1457740800000},"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":[[2016,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>Cerebro\u2013Costo\u2013Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch\u2010derivative malformations with striking rib\u2010gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe a series of 12 sporadic and 4 familial patients including 13 infants\/children and 3 adults. Severe micrognathia and reduced numbers of ribs with gaps are consistent findings. Cleft palate, feeding difficulties, respiratory distress, tracheostomy requirement, and scoliosis are common. Additional malformations such as horseshoe kidney, hypospadias, and septal heart defect may occur. Microcephaly and significant developmental delay are present in a small minority of patients. Key radiological findings are of a narrow thorax, multiple posterior rib gaps and abnormal costo\u2010transverse articulation. A novel finding in 2 patients is bilateral accessory ossicles arising from the hyoid bone. Recently, specific mutations in <jats:italic>SNRPB<\/jats:italic>, which encodes components of the major spliceosome, have been found to cause CCMS. These mutations cluster in an alternatively spliced regulatory exon and result in altered SNRPB expression. DNA was available from 14 patients and <jats:italic>SNRPB<\/jats:italic> mutations were identified in 12 (4 previously reported). Eleven had recurrent mutations previously described in patients with CCMS and one had a novel mutation in the alternative exon. These results confirm the specificity of <jats:italic>SNRPB<\/jats:italic> mutations in CCMS and provide further evidence for the role of spliceosomal proteins in craniofacial and thoracic development. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37587","type":"journal-article","created":{"date-parts":[[2016,3,14]],"date-time":"2016-03-14T06:30:44Z","timestamp":1457937044000},"page":"1115-1126","source":"Crossref","is-referenced-by-count":26,"title":["Cerebro\u2013costo\u2013mandibular syndrome: Clinical, radiological, and genetic findings"],"prefix":"10.1002","volume":"170","author":[{"given":"Madeleine","family":"Tooley","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics St. Michael's Hospital Bristol United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Lynch","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Calgary Calgary 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