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However, limited knowledge has been accumulated regarding the phenotypic outcome of the interaction between different genetic conditions identified in the same patients. We report a newborn girl with brachytelephalangic chondrodysplasia punctata (BCDP) as well as frontonasal dysplasia, ptosis, bilateral hearing loss, vertebral anomalies, and pulmonary hypoplasia who was found, by whole exome sequencing, to have a de novo pathogenic variant in <jats:italic>RAF1<\/jats:italic> (c.770C&gt;T, [p.Ser257Leu]) and a likely pathogenic variant in <jats:italic>SIX2<\/jats:italic> (c.760G&gt;A [p.A254T]), as well as maternal systemic lupus erythematosus (SLE). This case shows that BCDP is most probably not a diagnostic entity and can be associated with various conditions associated with CDP including maternal SLE.<\/jats:p>","DOI":"10.1002\/ajmg.a.61621","type":"journal-article","created":{"date-parts":[[2020,6,7]],"date-time":"2020-06-07T13:18:57Z","timestamp":1591535937000},"page":"1807-1811","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Maternal <scp>SLE<\/scp> and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo <scp><i>RAF1<\/i><\/scp> and <scp><i>SIX2<\/i><\/scp> variants"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9026-7002","authenticated-orcid":false,"given":"Ebba","family":"Alkhunaizi","sequence":"first","affiliation":[{"name":"Genetics Program North York General Hospital, University of Toronto  Toronto Ontario 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