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Article

Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family.

American journal of medical genetics. Part A - 1 Jan 2018

González-Del Angel Ariadna, Caro-Contreras Alan, Alcántara-Ortigoza Miguel Angel, Ramos Sandra, Cruz-Alcívar Roberto, Moyers-Pérez Paola

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29150894
DOI: 10.1002/ajmg.a.38526

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