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Here, we describe a Mexican patient with a confirmed molecular diagnosis of ACH\u2013HCH complex. This patient exhibits intellectual disability, has a history of seizures, experienced multiple cardiorespiratory complications during early childhood, and required foramen magnum decompression. However, he now shows a stable health condition with long\u2010term survival (current age, 18 years). This case is particularly relevant to our understanding of ACH\u2013HCH complex and for the genetic counseling of couples who are affected with ACH or HCH.<\/jats:p>","DOI":"10.1002\/ajmg.a.38660","type":"journal-article","created":{"date-parts":[[2018,4,22]],"date-time":"2018-04-22T04:10:11Z","timestamp":1524370211000},"page":"1225-1231","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Further delineation of achondroplasia\u2013hypochondroplasia complex with long\u2010term survival"],"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, Avenida Insurgentes Sur 3700\u2010C, Insurgentes Cuicuilco Coyoac\u00e1n, Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roc\u00edo","family":"Rius","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica Humana, Instituto Nacional de Pediatr\u00eda Avenida Insurgentes Sur 3700\u2010C, Insurgentes Cuicuilco Coyoac\u00e1n, Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel A.","family":"Alc\u00e1ntara\u2010Ortigoza","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Departamento de Gen\u00e9tica Humana Instituto Nacional de Pediatr\u00eda, Avenida Insurgentes Sur 3700\u2010C, Insurgentes Cuicuilco Coyoac\u00e1n, Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Spector","sequence":"additional","affiliation":[{"name":"Children's Hospital Colorado University of Colorado School of Medicine Aurora, Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"del Castillo","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica Humana, Instituto Nacional de Pediatr\u00eda Avenida Insurgentes Sur 3700\u2010C, Insurgentes Cuicuilco Coyoac\u00e1n, Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis Enrique","family":"Mata\u2010Garc\u00eda","sequence":"additional","affiliation":[{"name":"M\u00e9dico Residente de Gen\u00e9tica M\u00e9dica, Departamento de Gen\u00e9tica Humana Instituto Nacional de Pediatr\u00eda Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,4,21]]},"reference":[{"issue":"2","key":"e_1_2_6_2_1","first-page":"368","article-title":"Achondroplasia is defined by recurrent G380R mutations of FGFR3","volume":"56","author":"Bellus G. 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