González-Del Angel Ariadna, Caro-Contreras Alan, Alcántara-Ortigoza Miguel Angel, Ramos Sandra, Cruz-Alcívar Roberto, Moyers-Pérez Paola
Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, Ciudad de México, México.
Médico Residente de Genética Médica, Departamento de Genética Humana, Instituto Nacional de Pediatría, Ciudad de México, México.
Am J Med Genet A. 2018 Jan;176(1):161-166. doi: 10.1002/ajmg.a.38526. Epub 2017 Nov 17.
Hypochondroplasia (HCH) is a skeletal dysplasia caused by an abnormal function of the fibroblast growth factor receptor 3. 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.
软骨发育不全（HCH）是一种由成纤维细胞生长因子受体3功能异常引起的骨骼发育不良。尽管人们认为它相对常见，但由于其临床、放射学和基因的异质性，其患病率和表型尚未完全明确。在此，我们报告一个经分子检测证实的HCH家系，父亲及两个孩子患病。患有HCH的兄妹（一男一女）分别还患有颅缝早闭和腭裂。本报告支持以下结论：HCH的完整临床谱尚未完全阐明。这也表明，尚未知晓的继发性修饰因素可影响最终表型。
