Vector control in internal midface distraction using temporary anchorage devices.

Le Fort III and monobloc distraction osteogenesis serve as the primary surgical treatment for children with severe midface hypoplasia. The orbital retrusion and class III malocclusion of patients with midface hypoplasia is best addressed with bodily advancement of the midface segment parallel to the cephalometric Frankfort horizontal plane. Use of internal distraction devices allows for advancement of the midface without extensive external hardware but comes at the cost of less vectorial control, resulting in a distraction vector that can cause a clockwise rotation of the entire midface or frontofacial component creating hollow appearing orbits. To counteract this clockwise rotation, we have developed a technique using orthodontic microimplants to anchor interarch class III relationship elastics. We report our experiences with this technique on a cadaveric model and as a case series of 17 patients who underwent midface distraction. A Le Fort III distraction procedure was carried out on a cadaver, and the orbital height was measured at 0-, 10-, and 20-mm distraction advancement with and without elastics in a class III relationship. Improvement of both subjective hollow appearance of the orbits and objective measurement of the orbital height with class III relationship elastics demonstrated the efficacy of class III relationship elastics in counteracting the clockwise rotation of the midface segment. A review of 17 patients with midface or frontofacial hypoplasia treated with Le Fort III or monobloc distraction with simultaneous microimplant anchored class III relationship elastics revealed correction of malocclusion and improved midface projection without significant increase in vertical height of the orbits.

Intraoperative absent bilateral medial recti in syndromic craniosynostosis.

Patients with syndromic craniosynostosis are usually associated with the complexity of the malformation complex. We describe here detailed oculo-motility disorder and a remarkable finding of hypoplastic bilateral media recti on imaging and its intraoperative absence in patients with phenotypic features resembling Shprintzen-Goldberg syndrome (SGS). SGS is a rare congenital disorder with craniosynostosis affecting multiple systems including mentation and having a considerable overlap of its phenotypic features with Marfan syndrome. Large A-pattern exotropia found in these patients may be related to the craniofacial features and their bearing on extraocular muscle development and function. In this paper, we aimed to sensitise ophthalmologists and strabismologists concerning the necessity to recognise syndromic associations of patients with craniosynostosis presenting with a large squint, be aware of the intraoperative surprises and consider the challenges in its management.

Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report.

BACKGROUND Shprintzen-Goldberg syndrome (SGS) is an extremely rare collagenopathy, most often caused by autosomal-dominant mutations in the SKI proto-oncogene, which is a component of the transforming growth factor beta (TGF-ß) signaling pathway. Approximately 50-60 cases of SGS have been recorded in the literature worldwide since its discovery in 1982. This collagen disorder affects bone and vascular development throughout the body, resulting in craniosynostosis, scoliosis, chest deformities, and aortic root dilation. Patients may have problems in the central nervous system, including Chiari 1 malformation, hydrocephalus, and dilation of the lateral ventricles. Unfortunately, the symptoms of SGS closely parallel those of related collagenopathies involving mutations in the TGF-ß signaling pathway, which makes accurate diagnosis difficult without genetic testing, especially in cases with complex presentation. CASE REPORT In this report we present the unique and complex disease manifestations in a 9-year-old girl with SGS. The patient had severe cervical spinal instability that resolved after surgical occipital-C4 fusion with an autograft from the rib. Midface distraction surgery was used to treat the patient's craniosynostosis and related facial deformities. This surgery was complicated by loss of 750 mL of blood due to insufficient dura and prominent vasculature. CONCLUSIONS Connective tissue symptoms associated with SGS can involve dural and vascular problems, as seen in this case report. Thus, the risk of extreme blood loss should be anticipated any time midface distraction surgery is performed on an SGS patient. Continued research is needed to define how this case relates to the SGS patient population.

[Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases].

OBJECTIVE: To discuss the clinical diagnosis and surgical treatment of congenital contractural arachnodactyly (CCA). METHODS: The clinical data of 6 CCA patients, 1 male and 5 female, aged 7.5 (5-14) were analyzed. All cases had kyphoscoliosis, 2 in the thoracic segments and 4 in the thoracolumbar segments. The average scoliosis Cobb angle was 88.6 degrees (85 degrees-117 degrees). The average kyphosis Cobb angle was 93.6 degrees (75 degrees-123 degrees). All of the cases underwent internal fixation with pedicle screw and lamina hooks instrumentation, in which 4 cases underwent posterior Smith-Petersen osteotomy. The diagnosis was based on a constellation of clinical findings. The clinical manifestations included marfanoid habitus, flexion contractures of multiple joints (elbow, knee, hip, and finger), kyphoscoliosis, muscular hypoplasia, and abnormal pinnae ("crumpled" outer helices). Molecular genetic testing showed mutation in the fibrillin-2 (FBN2) gene encoding the extracellular matrix microfibril. Four cases were followed up for 6-9 months. RESULTS: After operation the average Cobb angle of the scoliosis and kyphosis were 37.6 degrees (35 degrees-52 degrees) and 38.6 degrees (28 degrees-54 degrees) immediately, with 62.3% and 68.7% curve correction respectively. Three cases got excellent synostosis of posterior lamina, 1 case underwent revision with lamina hook because the distal screw was loose and hurt the nerve root, and the other 2 cases lost follow-up. The patients' body appearance and pulmonary function were obviously improved. CONCLUSION: The characteristic clinical manifestation include severe and stiff kyphoscoliosis, difficult to correct , and enhanced Cobb angle, and pedicle dysplasia of vertebral pedicle leading to difficulty in installing screws. Smith-Petersen osteotomy is often necessary. CCA should be differentiated with Marfan syndrome (MFS), Stickler syndrome, Homocystinuria, and distal arthrogryposis, especially MFS.

[Surgical correction of contractural arachnodactyly deformity of a child with Marfan syndrome].

A Marfan syndrome child with contractural arachnodactyly deformity of both hands was admitted to our unit in June 2015. The left and right middle fingers and ring fingers of the child received the continuous " Z" skin flap and " V-Y" plasty to reduce the palmar tension on the skin and release the contracture. Due to the improper therapeutic strategy and the underestimation of effect of underlying lesions of Marfan syndrome on the therapeutic strategy, the right middle finger of child was with ischemic necrosis and amputated, and the finger tip was accompanied with distension and paroxysmal neuropathic pain at a specified future date. The skin flaps of the other three surgical fingers were with local necrosis and scar healing. The child was complicated by distal interphalangeal joints stiffness and some serious complications post-discharge. Combined with this case, the similar disorders are not recommended to carry out one-stage operation.