Craniometaphyseal dysplasia is an extremely rare, genetic bone-remodeling disorder. Comparable to osteopetrosis, fibrous dysplasia, and other infrequent conditions, craniometaphyseal dysplasia is characterized by progressive diffuse hyperostosis of the neuro- and viscerocranium. Affected patients present with a pathognomonic dysmorphia: macrocephalus, hypertelorism, bulky facial skeleton, and a prominent mandible. Progressive thickening and petrification of the craniofacial bones can continue throughout life, often resulting in neurological symptoms due to obstruction of the cranial nerves in the foramina and therefore immediately requiring neurosurgical interventions to avoid persistent symptoms with severe impairment of function. Treatment is largely infeasible given the lack of suitable tools to perform a craniotomy through the gross calvarial bone. In this paper, the authors present a complete process chain from the CT-based generation of an individual patient's model displaying his pathology to optimized preoperative planning of the skull's shape with a thickness of about 6-7 mm. For concise verification of the surgical plan in an operating room environment, a 3D real-time navigation prototype system was utilized. To guarantee realization of the surgery in a reasonable time frame, the mechanical tools were preoperatively selected for optimizing the ablation rate in porcine and bovine bone, which were comparable to that in the patient. This process chain was developed in a modular way, so that it could be easily adopted completely or partially for other surgical indications. A 21-year-old man was treated according to this sophisticated concept. Skull bone more than 50 mm thick in some regions was reduced to physiological thickness. The patient was thus in a stage that neurosurgical interventions could be performed with a regular risk within a reasonable time of treatment.
"Nerve damage can lead to facial palsy, blindness and deafness. Increased bone formation can further lead to Chiari malformation, compression of the spinal cord and syringomyelia [5,6,7]. The metaphyses of long bones are widened and undertrabeculated, possibly due to insufficient bone remodeling by dysfunctional osteoblasts and osteoclasts [8,9]. "
[Show abstract][Hide abstract] ABSTRACT: Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR) form of CMD had been mapped to 6q21-22 the mutation has been elusive. In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln) in the C-terminus of the gap junction protein alpha-1 (GJA1) coding for connexin 43 (Cx43). We confirmed this mutation in 6 individuals from 3 additional families. The homozygous mutation cosegregated only with affected family members. Connexin 43 is a major component of gap junctions in osteoblasts, osteocytes, osteoclasts and chondrocytes. Gap junctions are responsible for the diffusion of low molecular weight molecules between cells. Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD. However, characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with the recessive Arg239Gln Cx43 mutation. Bone remodeling mechanisms disrupted by this novel Cx43 mutation remain to be elucidated.
PLoS ONE 08/2013; 8(8):e73576. DOI:10.1371/journal.pone.0073576 · 3.23 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Durch die Einführung computergestützter Verfahren wurden viele operative Vorgehensweisen in der kraniofazialen Chirurgie verändert. Anhand virtueller und realer Modelle der individuellen Patientenanatomie ist es möglich, exakte Behandlungsplanungen und Operationssimulationen durchzuführen. Die Verwendung eines dreidimensionalen (3-D)-Echtzeitnavigationssystems erlaubt es, die Planungsdaten mit einer Genauigkeit im Submillimeterbereich in das Operationsumfeld zu übertragen. Im vorliegenden Beitrag wird ein Workflow für die Dysgnathiebehandlung von der Datenakquisition bis hin zur Navigation vorgestellt. Anhand zweier seltener syndromaler Fälle wird die Anwendung solcher Behandlungspläne in der klinischen Routine beschrieben.
Many operative approaches in craniofacial surgery have been modified due to the introduction of computer-aided procedures. Using virtual and real-time models of individual patient anatomy it is now possible to carry out exact treatment planning and surgical simulation. The use of a 3-dimensional (3D) real-time navigation system allows the planning data to be transferred to the operational field with submillimeter accuracy. In this article a work-flow for the treatment of dysgnathia from data acquisition to navigation will be presented. The implementation of such treatment plans in the clinical routine is exemplified by two rare syndromal cases.
Der MKG-Chirurg 11/2012; 5(4):279-288. DOI:10.1007/s12285-012-0305-z
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