{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T07:42:55Z","timestamp":1788248575772,"version":"build-2803163510"},"reference-count":57,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,5,31]],"date-time":"2015-05-31T00:00:00Z","timestamp":1433030400000},"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":[[2015,9]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>Robin sequence (RS) can be defined as the combination of micrognathia and upper airway obstruction\/glossoptosis causing neonatal respiratory problems, with or without a cleft palate and either isolated or non\u2010isolated. Pathogenesis varies widely. We hypothesize that optimal treatment depends on pathogenesis and therefore patients should be stratified according to diagnosis. Here, we evaluate diagnoses and (presumed) pathogeneses in an RS cohort. Medical records of all RS patients presenting between 1995\u20132013 in three academic hospitals were evaluated. Four clinical geneticists re\u2010evaluated all information, including initial diagnosis. Diagnoses were either confirmed, considered uncertain, or rejected. If uncertain or rejected, patients were re\u2010evaluated. Subsequent results were re\u2010discussed and a final conclusion was drawn. We included 191 RS patients. After re\u2010evaluation and changing initial diagnoses in 48 of the 191 patients (25.1%), 37.7% of the cohort had isolated RS, 8.9% a chromosome anomaly, 29.3% a Mendelian disorder, and 24.1% no detectable cause. Twenty\u2010two different Mendelian disorders were diagnosed, of which Stickler syndrome was most frequent. Stratification of diagnoses according to (presumed) pathogenic mechanism in 73 non\u2010isolated patients with reliable diagnoses showed 43.9% to have a connective tissue dysplasia, 5.5% a neuromuscular disorder, 47.9% a multisystem disorder, and 2.7% an unknown mechanism. We diagnosed more non\u2010isolated RS patients compared to other studies. Re\u2010evaluation changed initial diagnosis in a quarter of patients. We suggest standardized re\u2010evaluation of all RS patients. Despite the relatively high diagnostic yield pathogenesis could be determined in only 59.7% (71\/119), due to limited insight in pathogenesis in diagnosed entities. Further studies into pathogenesis of entities causing RS are indicated. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37154","type":"journal-article","created":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T01:15:02Z","timestamp":1433121302000},"page":"1983-1992","source":"Crossref","is-referenced-by-count":43,"title":["Etiology and pathogenesis of robin sequence in a large Dutch cohort"],"prefix":"10.1002","volume":"167","author":[{"given":"Hanneke","family":"Basart","sequence":"first","affiliation":[{"name":"Department of Pediatrics Academic Medical Center University of Amsterdam Amsterdam Netherlands"},{"name":"Department of Plastic and Reconstructive Surgery Academic Medical Center University of Amsterdam Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma C.","family":"Paes","sequence":"additional","affiliation":[{"name":"Department of Plastic Reconstructive and Hand Surgery University Medical Center Utrecht\/ Wilhelmina Children's Hospital Utrecht Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia M.","family":"Maas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Academic Medical Center University of Amsterdam Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Jose H.","family":"van den Boogaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Utrecht Medical Center\/Wilhelmina Children's Hospital Utrecht Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna M.","family":"van Hagen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics VU Medical Center Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corstiaan C.","family":"Breugem","sequence":"additional","affiliation":[{"name":"Department of Plastic Reconstructive and Hand Surgery University Medical Center Utrecht\/ Wilhelmina Children's Hospital Utrecht Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan Maarten","family":"Cobben","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Academic Medical Center University of Amsterdam Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Peter W.","family":"Don Griot","sequence":"additional","affiliation":[{"name":"Department of Plastic Reconstructive and Hand Surgery VU Medical Center Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Augusta M. A.","family":"Lachmeijer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics VU Medical Center Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaske D.","family":"Lichtenbelt","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Utrecht Medical Center\/Wilhelmina Children's Hospital Utrecht Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daan P. 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