• Imaging Science in Dentistry
• /
• v.30 no.3
• /
• pp.229-234
• /
• 2000

Cleidocranial dysplasia (previously known as cleidocranial dysostosis) is a well-known, rare and hereditary skeletal disorder characterized by a variety of dental abnormalities and as its name implies, striking involvement of the cranial vaults and clavicles. A 17-year-old female who presented with short stature and prolonged retention of deciduous teeth, subsequent delay in eruption of permanent teeth is described. She could touch her shoulders together at the midline anteriorly. Diagnostic procedures showed hypoplasia of the maxillary and zygomatic bones, open fontanelles and sutures, and aplasia of the clavicles. The paranasal sinuses were absent or underdeveloped. Characteristically, she had near parallel-sided borders in the ascending ramus of the mandible and abnormal-shaped, the slender pointed coronoid process. The zygomatic arches had a downward bend and discontinuity at the zygomaticotemporal suture area. Radiographic and clinical investigations of her cranial and skeletal abnormalities revealed features of cleidocranial dysplasia.

• Archives of Plastic Surgery
• /
• v.33 no.2
• /
• pp.237-240
• /
• 2006

The simultaneous correction of the hypertelorism and exophthalmos combined with craniosynostosis is very rarely performed operative procedures in the world. The craniosynostosis is the congenital anomaly that designates premature fusion of one or more sutures in either cranial vault or cranial base. Hypertelorism is not a distinct clinical syndrome in itself, but is a physical finding secondary to facial and cranial maldevelopment and it is defined as a increase in the distance between the medial orbital walls. Exophthalmos can occur following the decrease in the size of the orbit in patients with developmental skeletal disorders such as craniofacial synostosis. The authors experienced 9-year-old male patient, who has complex cranio-facial abnormality. The craniosynostosis was oxycephaly type and primary fronto-orbital advancement surgery had been performed in other hospital. The abnormal cranial vault combined with hypertelorism and exophthalmos due to maldeveloped both orbital walls. Surgical correction was obtained by various cranio-fronto-orbital remodeling technique such as calvarial bone craniotomy, fronto-orbital advancement, paramedian resection, medial canthopexy, Tessier-Wolfe three wall orbital expansions. We achieved a quite satisfactory result both functionally and aesthetically in a complex cranio-facial deformity patient by combination and modification of previously developed various cranio-facial plasty technique and hereby report the case with brief discussion and review of literature.

• Journal of Korean Dental Science
• /
• v.4 no.1
• /
• pp.6-13
• /
• 2011

Purpose: Craniosynostosis (CS), one of the most common congenital craniofacial deformities, is the premature closure of cranial sutures. NELL-1 is a novel molecule overexpressed during premature cranial suture closure in human CS. From a functional perspective, NELL-1 has been reported to accelerate chondrocyte maturation and modulate calvarial osteoblast differentiation and apoptosis pathways. The mechanism through which NELL-1 induces these phenomena, however, remains unclear. The purpose of this study is to identify the NELL-1 binding protein(s) through which the biologic mechanism of NELL-1 can be further investigated. Materials and Methods: Far-Western and Immunoprecipitation (IP) assays were performed, independently and in sequence, followed by mass spectrometry to identify the NELL-1 binding proteins. Reverse IP was used to verify and confirm candidate binding protein. Results: The only confirmative protein from current experimentation was vimentin. Vimentin is the major structural component of the intermediate filaments. Conclusion: The present study identified and confirmed vimentin as a NELL-1 binding protein, which opened up a new window to mechanistically facilitate studies on this CS-associated molecule.

• Archives of Plastic Surgery
• /
• v.32 no.4
• /
• pp.474-478
• /
• 2005

Craniosynostosis is a congenital anomaly characterized by premature closure of cranial sutures. Surgical intervention should be performed during infancy. However, surgical correction of craniosynostosis remains bone defect and secondary angle occasionally. Currently, publications investigating solutions to bone defect and secondary angle created by cranioplasty are getting much interest. We have used $BoneSource^{(R)}$ which is relatively safe as an implantable substance for providing solutions for this problem. From June 2002 to January 2004, five children with craniosynostosis underwent frontocalvarial contouring using $BoneSource^{(R)}$ and concurrent cranial vault remodeling. The patient ages ranged from 8.0 months to 4.9 years(mean, 2.5 years). The quantity of $BoneSource^{(R)}$ implanted ranged from 10 to 25g, with a mean of 13g. This paper presents the first series of children treated with $BoneSource^{(R)}$ for frontocalvarial contouring in the surgical correction of craniosynostosis. No patients experienced any complications. Our results shows excellent retention of contour without causing asymmetry or irregularity. No visible evidence of interference with craniofacial growth were observed. Through our experiences, $BoneSource^{(R)}$ is found to be very useful for frontocalvarial contouring in children undergoing correction of craniosynostosis.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.30 no.3
• /
• pp.391-405
• /
• 2003

Craniosynostosis, known as a premature fusion of cranial sutures, is a developmental disorder characterized by precocious differentiation and mineralization of osteoblasts in the calvarial sutures. Recent genetic studies have demonstrated that mutation in the homeobox gene Msx2 causes Boston-type human craniosynostosis. Additionally, the phenotype of Dlx5 homozygote mutant mouse presents craniofacial abnormalities including a delayed ossification of calvarial bone. Furthermore transcription of osteocalcin, a mature osteoblast marker, is reciprocally regulated by the homeodomain proteins Msx2 and Dlx5. These facts suggest important roles of osteocalcin, Msx2 and Dlx5 genes in the calvarial bone growth and suture morphogenesis. To elucidate the function of these molecules in the early morphogenesis of mouse cranial sutures, we have first analyzed by in situ hybridization the expression of osteocalcin, Msx2 and Dlx5 genes in the developing parietal bone and sagittal suture of mouse calvaria during the embryonic (E15-E18) stage. Osteocalcin mRNA was found in the periosteum of parietal bones from E15, and gradually more highly expressed with aging. Msx2 mRNA was intensely expressed in the sutural mesenchyme, osteogenic fronts and mildly expressed in the dura mater during the embryonic stage. Dlx5 mRNA was intensely expressed osteogenic fronts and the periostem of parietal bones. To further examine the upstream signaling molecules of transcription factor Msx2 and Dlx5, we have done in vitro experiments in E15.5 mouse calvarial explants. Interestingly, implantation of BMP2-, BMP4-soaked beads onto the osteogenic fronts after 48 hours organ culture induced etopic expressions of Msx2 and Dlx5 genes. On the other hand, overexpression of $TGF{\beta}1$, GDF-6, -7, FGF-2, -4 and Shh did not induce the expression of Msx2 and Dlx5. Taken together. these data indicate that transcription factor Msx2 and Dlx5 play critical roles in the calvarial bone and suture development, and that BMP siganling is involved in the osteogenesis of calvarial bones and the maintenance of cranial sutures through regulating these two transcriotpn factors. Furthermore, different expression patterns between Msx2 and Dlx5 suggest their specific functions in the osteoblast differentiation.

• The korean journal of orthodontics
• /
• v.33 no.6 s.101
• /
• pp.485-497
• /
• 2003

The form and function of the craniofacial structure critically depend on genetic information. With recent advances in the molecular technology, genes that are important for normal growth and morphogenesis of the craniofacial skeleton are being rapidly uncovered, shaping up modem craniofacial biology. One of them is fibroblast growth factor receptor 2 (FGFR2). Specific point mutations in the. FGFR2 gene have been linked to Apert syndrome, which is characterized by premature closure of cranial sutures and craniofacial anomalies as well as limb deformities. To study pathogenic mechanisms underlying craniosynostosis phenotype of Apert syndrome, we used a transgenic approach; an FGFR2 minigene construct containing an Apert mutation (a point mutation that substitute proline at the position 253 to arginine; P253R) was introduced into fertilized mouse germ cells by DNA microinjection. The injected cells were then allowed to develop into transgenic mice. We used a bone-specific promoter (a DNA fragment from the type I collagen gene) to confine the expression of mutant FGFR2 gene to the bone tissue, and asked whether expression of mutant FGFR2 in bone is sufficient to cause the craniosynostosis phenotype in mice. Initial characterization of these mice shows prematurely closed cranial sutures with facial deformities expected from Apert patients. We also demonstrate that the transgene produces mutant FGFR2 protein with increased functional activities. Having this useful mouse model, we now can ask questions regarding the role of FGFR2 in normal and abnormal development of cranial bones and sutures.

• Journal of Korean Neurosurgical Society
• /
• v.59 no.3
• /
• pp.219-226
• /
• 2016

The purpose of this article is to review imaging findings and to discuss the optimal imaging methods for craniosynostosis. The discussion of imaging findings are focused on ultrasonography, plain radiography, magnetic resonance imaging and computed tomography with 3-dimensional reconstruction. We suggest a strategy for imaging work-up for the diagnosis, treatment planning and follow-up to minimize or avoid ionized radiation exposure to children by reviewing the current literature.

• Journal of Korean Neurosurgical Society
• /
• v.59 no.3
• /
• pp.197-203
• /
• 2016

Craniosynostosis is defined as the premature fusion of one or more cranial sutures resulting in skull deformity. Characteristically, this disorder can cause diverse neurosurgical problems, as well as abnormal skull shape. Intracranial hypertension, hydrocephalus, Chiari malformation and neuropsychological dysfunction are the major neurosurgical concerns in children with craniosynostosis. In this review article, we investigate pathophysiology, characteristics and proper neurosurgical management of these neurosurgical issues, respectively.

• Imaging Science in Dentistry
• /
• v.35 no.4
• /
• pp.225-229
• /
• 2005

Cleidocranial dysplasia is a rare, autosomal dominant congenital disorder. A 12-year old female visited with chief complaint of unerupted permanent teeth. Also her father showed severe class III malocclusion. The extraoral radiography and computed tomography showed delayed closure of the cranial sutures and underdevelopment of maxilla, maxillary sinuses, and frontal sinus. Both clavicles were underdeveloped and thoracic rib cage was bell­shaped. Both zygomatic process appeared as hypoplastic feature. There were many unerupted permanent and supernumerary teeth in the maxilla and mandible. We examined location and number of the unerupted teeth using 3D CT. Finally we could conclude this case was cleidocranial dysplasia based on the clinico-radiologic findings.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.25 no.1
• /
• pp.144-151
• /
• 1998

Cleidocranial dysplasia (CCD), which is accepted as an autosomal disorder, is a generalized disorder of bone with severe dental abnormalities. Among the most characteristic anomalies seen are hypoplasia of clavicles or aplasia of clavicles, permanant non-ossification of cranial sutures & fontanels, delayed eruption of the permanant dentition & the presence of unerupted supernumerary teeth. CCD may first be noted by dentist because of many dental problems, so we should diagnose the disorder earlier & understand the development of dentition in CCD to ensure timely intervention with proper periodic dental X-ray.