Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

We have characterized a novel autosomal recessive Crouzon-like craniosynostosis syndrome in a 12-affected member family from Antakya, Turkey, the presenting features of which include: multiple suture synostosis, midface hypoplasia, variable degree of exophthalmos, relative prognathism, a beaked nose, and conductive hearing loss. Homozygosity mapping followed by targeted next-generation sequencing identified a c.479+6T>G mutation in the interleukin 11 receptor alpha gene (IL11RA) on chromosome 9p21.

Use of three-dimensional medical modeling methods for precise planning of orthognathic surgery.

Stereolithographic (medical rapid prototyping) biomodeling allows three-dimensional computed tomography to be used to generate solid plastic replicas of anatomic structures. Reports in the literature suggest that such biomodels may have a use in maxillofacial surgery, craniofacial surgery, orthopedics, neurosurgery, otology, vascular, and nasal research. A prospective trial to assess the usefulness of biomodeling in orthognathic surgery has been performed.