The Largest Germline Heterozygous Deletion Encompassing Potocki-Shaffer and WAGR Syndromes Loci to Date: A Case Report.

Potocki-Schaffer syndrome includes multiple exostoses, parietal foramina, and variable developmental delay/intellectual disability. It is associated with a heterozygous deletion of the 11p12p11.2 region. In some cases, the deletion extends to the WAGR locus (11p13p12). We describe here a 9-month-old girl harboring the largest germline heterozygous deletion characterized so far. Oligohydramnios and parietal foramina were noticed during pregnancy. No patient has been diagnosed before with concomitance of these two syndromes during the prenatal period. Cytogenetic diagnosis was anticipated on basis of clinical and radiological signs. Postnatal conventional karyotype confirmed an interstitial 11p deletion: 46,XX,del(11)(p11.2p15.1). Array-comparative genomic hybridization characterized a 29.6 Mb deletion. Our case illustrates the interest of high-resolution genomic approaches to correlate adequately clinical phenotypes with specific genes in suspected contiguous gene deletion syndromes.

Ten-Step Minimally Invasive Spine Lumbar Decompression and Dural Repair Through Tubular Retractors.

BACKGROUND: Minimally invasive spine (MIS) surgery utilizing tubular retractors has become an increasingly popular approach for decompression in the lumbar spine. However, a better understanding of appropriate indications, efficacious surgical techniques, limitations, and complication management is required to effectively teach the procedure and to facilitate the learning curve. OBJECTIVE: To describe our experience and recommendations regarding tubular surgery for lumbar disc herniations, foraminal compression with unilateral radiculopathy, lumbar spinal stenosis, synovial cysts, and dural repair. METHODS: We reviewed our experience between 2008 and 2014 to develop a step-by-step description of the surgical techniques and complication management, including dural repair through tubes, for the 4 lumbar pathologies of highest frequency. We provide additional supplementary videos for dural tear repair, laminotomy for bilateral decompression, and synovial cyst resection. RESULTS: Our overview and complementary materials document the key technical details to maximize the success of the 4 MIS surgical techniques. The review of our experience in 331 patients reveals technical feasibility as well as satisfying clinical results, with no postoperative complications associated with cerebrospinal fluid leaks, 1 infection, and 17 instances (5.1%) of delayed fusion. CONCLUSION: MIS surgery through tubular retractors is a safe and effective alternative to traditional open or microsurgical techniques for the treatment of lumbar degenerative disease. Adherence to strict microsurgical techniques will allow the surgeon to effectively address bilateral pathology while preserving stability and minimizing complications.