{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T20:29:37Z","timestamp":1781555377628,"version":"3.54.5"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,11,7]],"date-time":"2016-11-07T00:00:00Z","timestamp":1478476800000},"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":[[2017,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Relatively few patients with Cornelia de Lange syndrome (CdLS) due to <jats:italic>SMC1A<\/jats:italic> mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic <jats:italic>NIPBL<\/jats:italic>\u2010associated CdLS, patients with <jats:italic>SMC1A<\/jats:italic>\u2010associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with <jats:italic>SMC1A<\/jats:italic>\u2010associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate. She also was found to have three novel features: (i) left ventricular non\u2010compaction (LVNC) cardiomyopathy; (ii) microform cleft lip; and (iii) severe hyperopia and astigmatism. These features have implications regarding potential insight into the pathogenesis of the disorder, screening, and medical management. Hypertrophic cardiomyopathy has previously been reported in <jats:italic>SMC1A<\/jats:italic>\u2010associated CdLS, but to our knowledge this is the first reported child with LVNC. Previous reports have included children with isolated clefts of the palate without involvement of the lip. When cleft palate alone is associated with a disorder, the underlying pathophysiology for clefting is sometimes secondary due to mechanical blocking of the fusion of the palatal shelves with the developing tongue. The presence of microform cleft lip in this patient suggests that the pathophysiology of clefting in <jats:italic>SMC1A<\/jats:italic> is primary rather than secondary. Few studies report ophthalmologic findings specific to <jats:italic>SMC1A<\/jats:italic>. Based on these findings, LVNC cardiomyopathy and cleft lip should be considered features of <jats:italic>SMC1A<\/jats:italic>\u2010associated CdLS. All patients should receive echocardiogram and undergo thorough ophthalmologic evaluation as part of routine CdLS care. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38030","type":"journal-article","created":{"date-parts":[[2016,11,7]],"date-time":"2016-11-07T11:00:34Z","timestamp":1478516434000},"page":"414-420","source":"Crossref","is-referenced-by-count":14,"title":["Novel findings of left ventricular non\u2010compaction cardiomyopathy, microform cleft lip and poor vision in patient with <i>SMC1A<\/i>\u2010associated Cornelia de Lange syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Tara L.","family":"Wenger","sequence":"first","affiliation":[{"name":"Division of Craniofacial Medicine Seattle Children's Hospital Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penny","family":"Chow","sequence":"additional","affiliation":[{"name":"Division of Genetics Seattle Children's Hospital Seattle 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