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Two other individuals from the extended family with similar clinical features are also described. Array\u2010CGH did not reveal any pathological copy number variation. Exome sequencing failed to find any causal variants. Differential diagnoses and the possibility that we might be reporting a hitherto unknown syndrome are discussed.<\/jats:p>","DOI":"10.1002\/ajmg.a.61730","type":"journal-article","created":{"date-parts":[[2020,7,3]],"date-time":"2020-07-03T06:17:13Z","timestamp":1593757033000},"page":"1865-1872","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0714-2469","authenticated-orcid":false,"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"first","affiliation":[{"name":"Institut J\u00e9r\u00f4me Lejeune  Paris France"},{"name":"Faculty of Medical Sciences Lebanese University  Beirut 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