• Imaging Science in Dentistry
• /
• 제30권3호
• /
• 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
• /
• 제33권2호
• /
• 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
• /
• 제4권1호
• /
• 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
• /
• 제32권4호
• /
• 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.

• 대한소아치과학회지
• /
• 제30권3호
• /
• pp.391-405
• /
• 2003

두개봉합부의 조기융합으로 일컬어지는 craniosynostosis는 두개봉합부에서의 골아세포의 조기분화 및 석회화의 결과로 나타나는 선천성 발육이상이다. 최근 유전학적 연구에 의하면 homeobox gene인 Msx2의 변이에 의해 Boston-type craniosynostosis가 야기되며, 또한 Dlx5 homozygote mutant mouse의 표현형에서 두개골의 골화지연을 포함한 다양한 두개안면부위의 이상을 발견하였다는 보고가 있었다. 게다가 Msx2와 Dlx5 homeodomain protein의 상호작용에 의해 성숙골아세포의 표지자인 osteocalcin의 전사를 조절할 수 있다는 사실이 알려져 있다. 이러한 일련의 결과들은 Msx2 Dlx5 및 osteocalcin 유전자들이 두개골의 골화과정과 두개봉합부의 형태발생에 중요한 역할을 담당하고 있음을 제시해주고 있다. 두개골의 성장과 두개봉합부의 형태발생시 이러한 유전자들의 기능을 알아보기위해 mouse의 태생기 (E15-E18) 동안 osteocalcin, Msx2, 및 Dlx5 유전자들의 발현양상을 조사하였다. Osteocalcin은 E15부터 두정골의 골막에서 관찰되었으며, 발생시기가 후기일수록 강한 발현양상을 나타내었다. Msx2는 시상봉합부의 미분화간엽조직과 osteogenic front에서 강하게 발현되었으며 경막과 hair follicle에서도 관찰되었다. Dlx5는 osteogenic front를 포함한 두정골의 골막에서 강하게 발현되었으나 시상봉합부의 미분화간엽조직 에서는 발현되지 않아, Msx2와는 발현양상의 차이를 나타내었다. 두개골과 두개봉합부의 발육과정에서의 Msx2와 Dlx5의 기능을 좀더 심도깊게 분석하기위해, 여러 가지 signaling molecule들의 protein을 사용하여 in vitro 실험을 시행하였다. BMP-2, -4 protein의 overexpression은 bead 주위로 Msx2 유전자의 발현을 유도하였으나, 다른 $TGF{\beta}$ superfamily인 $TGF{\beta}1$, GDF-6, -7 bead들 주위로는 Msx2를 관찰할 수 없었다. 또한 FGF, Shh protein 역시 bead주위로 Msx2의 발현을 유도하지않았다. 흥미롭게도 BMP-2, -4 protein의 overexpression은 bead 주위로 Dlx5 유전자의 발현을 유도하였으나, 다른 $TGF{\beta}$ superfamily, FGF, Shh bead주위로는 Dlx5를 관찰할 수 없어, Msx2와 동일한 결과를 나타내었다 이 결과들을 종합해볼 때, Msx2와 Dlx5 유전자는 두개골과 두개봉합부의 성장발육과정에 중요한 역할을 담당하고 있으며, BMP signaling은 이 두 전사조절인자들을 조절하므로써 두개골의 골화과정과 두개봉합부의 형태발생 및 유지에 관여하고 있음을 제시해주고 있다. 특히 BMP signaling에 specific downstream gene인 Msx2 및 Dlx5의 발현양상의 차이는 골아세포의 분화시 이들 유전자가 각각의 독특한 기능을 가지고 있음을 시사해주고 있다.

• 대한치과교정학회지
• /
• 제33권6호
• /
• pp.485-497
• /
• 2003

악안면 구조의 형태와 기능은 대개 유전자 정보에 의해 결정된다. 분자생물학의 발달로 인해 정상 성장과 형태 형성에 중요한 유전자에 대한 정보가 밝혀지고 있고 이는 현대 두개안면 생물학의 근간이 되고 있다. 밝혀진 사실들 중 주목할만한 것은 섬유아세포 성장인자2 (FGFR2)에 서 의 특이한 돌연변이 가 어 퍼트 증후군 (Apert syndrome) 의 발생과 관련이 있다는 것이다. 어퍼트 증후군은 두개 관상봉합의 조기 유합과 사지의 기형으로 특징지워진다. 그 중 특히 두개골 유합증의 병인과 형성기전을 연구하기 위해 본 연구에서 유전자 변환기법을 시도하여 어퍼트 증후군의 유발인자로 알려진 FGFR2에 서 의 단일 아미노산 치 환 돌연변이를 재연한 인위 유전자구조물을 제작하고 이를 미 세주입법으로 쥐의수정란에 삽입하여 형질변환 쥐를 제작하였다. 본 연구에서는 전체 조직이 아닌 골조직에서 특이하게 활성화되는 전사촉진자(promoter, 제 I형 교원질 유전자의 전사촉진자)를 이용하여 골조직에서만 돌연변이 유전자의 발현을 재현함으로써 이 시도가 쥐에서 두개골유합증을 유발하는지 검증하고자 하였다. 초기 표현형 분석을 통해 어퍼트 환자에서 기대되는 두개골 유합증을 확인하였다. 또한 본 연구에서 삽입된 변환유전자가 원활히 돌연변이 단백질을 생산하고 기능의 증가를 보임을 확인하였다. 이러한 동물 모델을 이용함으로써 이제 정상적 혹은 비정상적 두개골 및 봉합 발육에서의 FGFR2의 역할을 연구하는 것이 가능하리라 사료된다

• Journal of Korean Neurosurgical Society
• /
• 제59권3호
• /
• 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
• /
• 제59권3호
• /
• 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
• /
• 제35권4호
• /
• 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.

• 대한소아치과학회지
• /
• 제25권1호
• /
• 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.