By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon‐like craniosynostosis disorder, officially termed craniosynostosis and dental anomalies (MIM614188). Singularly,… Click to show full abstract
By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon‐like craniosynostosis disorder, officially termed craniosynostosis and dental anomalies (MIM614188). Singularly, it is inherited according to an autosomal recessive mode of inheritance. We identified six missense mutations in IL11RA, a gene encoding the alpha subunit of interleukin 11 receptor, 4 of them being novel, including 2 in the Ig‐like C2‐type domain. A subset of patients had an associated connective tissue disorder with joint hypermobility and intervertebral discs fragility. A smaller number of teeth anomalies than that previously reported in the two large series of patients evaluated in dental institutes points toward an ascertainment bias.
               
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