IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

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.

Eighteen cases of crowned dens syndrome: Presentation and diagnosis.

BACKGROUND AND PURPOSE: Crowned dens syndrome is an ill-known etiology of acute neck pain. METHODS: We carried out a retrospective study of 18 cases of patients with crowned dens syndrome, assessing clinical and radiological features. RESULTS: The results of our study are comparable to data from the literature. The clinical presentation of acute febrile neck pain, occipital headache and multidirectional stiff neck especially affects women aged over 60. No predisposing factor was recognized. However, a history of peripheral joint chondrocalcinosis may reinforce the diagnosis. In more than 50% of cases, laboratory tests showed a marked inflammatory syndrome. The diagnosis was obtained with cervical CT-scan focusing on the C1/C2 joint. This gold standard test was able to show a calcification of the cruciform ligament in connection with deposits of calcium pyrophosphate crystals in almost 80% of cases. Other imaging tests provided little information, including standard radiographs of the cervical spine. MRI can eliminate some differential diagnoses such as infections or neurological emergencies. Complications are infrequent. The standard treatment is based on anti-inflammatory drugs (NSAID, colchicine) or corticosteroids. These treatments are highly effective: a drammatic full recovery of cervical mobility may be observed within 48 hours. In over half of cases, a different diagnosis was initially made, responsible of unnecessary additional tests and treatment. CONCLUSION: A comprehensive consultation, a complete clinical examination and a precise analysis of the imaging will avoid certain investigations and rule out differential diagnoses.