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Cleidocranial dysplasia (CCD; MIM 119600) is a rare autosomal dominant disorder characterized by facial, dental, and skeletal malformations. To date, rearrangement and mutations involving RUNX2, which encodes a transcription factor required for osteoblast differentiation on 6p21, has been the only known molecular etiology for CCD. However, only 70% patients were found to have point mutations, 13% large/contiguous deletion but the rest of 17% remains unknown. We ascertained a family consisted of eight affected individuals with CCD phenotypes. Direct sequencing analysis revealed no mutations in the RUNX2. Real time quantitative PCR were performed which revealed an exon 2 to exon 6 intragenic deletion in RUNX2. Our patients not only demonstrated a unique gene change as a novel mechanism for CCD, but also highlight the importance of considering “deletion” and “duplication” in suspected familial cases before extensive effort of gene hunting be carried.

Background and objectives: Botulinum toxin type A has been shown to relieve primary headaches, myofascial pain and various neuropathic pains. Carpal tunnel syndrome (CTS) is a common disorder resulting from median nerve compression at the wrist. As reports of botulinum toxin A in the treatment of CTS were limited, this study set out to evaluate the safety and tolerability of botulinum toxin A and its effects on the relief of nerve entrapment and pain in patients with CTS. Methods: We conducted an open-label, prospective pilot study using 60 units of botulinum toxin A injected intracarpally in patients with primary CTS. Changes in median nerve conduction velocities, distal latencies, compound muscle action potentials and visual analogue scale (VAS) pain scores were evaluated for 3 months following injection. All adverse experiences, reported spontaneously or observed directly by the investigator, were recorded. Results: Five women aged 52.2 ± 2.5 years with 1–2 years’ history of CTS were enrolled. Botulinum toxin A was well tolerated and safe. No exacerbated hand weakness was observed in any of the patients. At 3 months, pain was lessened in three patients, remained static in one patient, and was aggravated in one patient. The VAS pain score showed a trend to improvement during the 3 months of follow-up, although it did not reach statistical significance (p = 0.2). Conclusion: Our data suggest long-lasting antinociceptive effects of botulinum toxin A rather than electrophysiological restoration in patients with CTS. Intracarpal injection of botulinum toxin A was shown to be well tolerated and safe. A double-blind, placebo-controlled trial of botulinum toxin A in CTS is warranted since the current study may have been confounded by the placebo effect of intracarpal injection.