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Although believed to be relatively common, its prevalence and phenotype are not well established owing to its clinical, radiological, and genetic heterogeneity. Here we report on a molecularly proven HCH family with an affected father and two children. The siblings (male and female) with HCH also had craniosynostosis and cleft palate, respectively. The present report supports the conclusion that the full clinical spectrum of HCH is not completely delineated. It also suggests that secondary, as yet unknown, modifying factors can influence the final phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38526","type":"journal-article","created":{"date-parts":[[2017,11,18]],"date-time":"2017-11-18T02:29:10Z","timestamp":1510972150000},"page":"161-166","source":"Crossref","is-referenced-by-count":6,"title":["Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7096-0969","authenticated-orcid":false,"given":"Ariadna","family":"Gonz\u00e1lez\u2010del Angel","sequence":"first","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Departamento de Gen\u00e9tica Humana Instituto Nacional de Pediatr\u00eda Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Caro\u2010Contreras","sequence":"additional","affiliation":[{"name":"M\u00e9dico Residente 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