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The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5\u2032 untranslated region of <jats:italic>EIF4A3<\/jats:italic> has been shown to cause this syndrome, commonly with 15 or 16 repeats. The only patient with mild clinical findings harbored a 14\u2010repeat expansion in 1 allele and a point mutation in the other allele. This proband is described here in more details, as well as is his affected sister, and 5 new individuals with Richieri\u2010Costa\u2010Pereira syndrome, including a patient from England, of African ancestry. This study has expanded the phenotype in this syndrome by the observation of microcephaly, better characterization of skeletal abnormalities, less severe phenotype with only mild facial dysmorphisms and limb anomalies, as well as the absence of cleft mandible, which is a hallmark of the syndrome. Although the most frequent mutation in this study was the recurrent 16\u2010repeat expansion in <jats:italic>EIF4A3<\/jats:italic>, there was an overrepresentation of the 14\u2010repeat expansion, with mild phenotypic expression, thus suggesting that the number of these motifs could play a role in phenotypic delineation.<\/jats:p>","DOI":"10.1111\/cge.13169","type":"journal-article","created":{"date-parts":[[2017,11,7]],"date-time":"2017-11-07T15:56:41Z","timestamp":1510070201000},"page":"800-811","source":"Crossref","is-referenced-by-count":14,"title":["Richieri\u2010Costa\u2010Pereira syndrome: Expanding its phenotypic and genotypic spectrum"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4701-6777","authenticated-orcid":false,"given":"D.R.","family":"Bertola","sequence":"first","affiliation":[{"name":"Unidade de Gen\u00e9tica, Instituto da Crian\u00e7a Hospital das Cl\u00ednicas da FMUSP, Universidade de S\u00e3o Paulo  S\u00e3o Paulo 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