• Journal of Korean Neurosurgical Society
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• 제58권1호
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• pp.79-82
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• 2015

Cleidocranial dysplasia is a well-documented rare autosomal dominant skeletal dysplasia characterized by hypoplastic/aplastic clavicles, brachycephalic skull, patent sutures and fontanelles, midface hypoplasia, and abnormalities of dentition. Patients with cleidocranial dysplasia often complain about undesirable esthetic appearance of their forehead and skull. Notwithstanding many studies of molecular, genetics and skeletal abnormalities of this congenial disorder, there have been very few written reports of cranioplasty involving cleidocranial dysplasia. Thus, we report a rare case of successful cranioplasty using a modified split calvarial graft technique in patient with cleidocranial dysplasia.

• Imaging Science in Dentistry
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• 제30권3호
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• pp.229-234
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• 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.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제37권
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• pp.41.1-41.6
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• 2015

Cleidocranial dysplasia is an autosomal dominant heritable skeletal disorder. The characteristic features of cleidocranial dysplasia (CCD) may include hypoplasia of the clavicle, delayed closure of frontanelles, late tooth eruption, and other skeletal disorders. This case report describes clinical and radiographic manifestations at the age of 11 and 29 of a CCD patient, investigates the mutation of core-binding factor A1 (CBFA1) based on gene analysis, and illustrates successful oral reconstruction with fixed prosthesis and dental implant after the extraction of multiple teeth.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제28권1호
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• pp.80-86
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• 2006

Cleidocranial dysplasia is rare inherited skeletal dysplasia. It was first reported by Martin in 1765. Subsequently, Marie and Sainton independently documented the criteria of the disease. Cleidocranial dysplasia is a bone disorder caused by a defect in the CBFA1 gene of chromosome 6p21. This gene guides osteoblastic differentiation and appropriate bone formation. Patient with cleidocranial dysplasia has maxillary deficiency, high and narrow palate, prolonged retention of primary teeth, unerupted permanent teeth and supernumerary teeth. Therapeutic options in these patients include of autotransplantation of selected impacted teeth, forced eruption of permanent teeth, full denture, overdenture and implant-supported prosthesis. We report a patient with cleidocranial dysplasia. This patient was treated with implant supported bar overdenture. Despite of gene defect that affects osteoblastic activity, bone remodeling and osseointegration occurred in our patient. So, we report this case with review of literature.

• Imaging Science in Dentistry
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• 제34권1호
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• pp.55-59
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• 2004

Cleidocranial dysplasia is a rare and autosomal dominent disorder characterized by aplasia or hypoplasia of the clavicles, an open fontanelle, dental abnormalities, and short stature, A 17-year-old female who presented with short stature and subsequent delay in eruption of permanent teeth is described. she showed the abnormal hypermobility of the shoulder, ocular hypertelorism and concave nasal bridge. Radiographs revealed the underdeveloped maxilla, defect of the cranium in the fontanelle region, and aplasia of the clavicles. Characteristically, panoramic view revealed near parallel-sided borders of the ascending ramus and downward curvature of the zygomatic arch with hypoplasia. The prolonged retention of deciduous teeth with delayed eruption of permanent teeth and multiple embedded supernumerary teeth were striking. Radiographic and clinical investigations revealed Cleidocranial dysplasia.

• Imaging Science in Dentistry
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• 제35권4호
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• pp.225-229
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• 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.

• 대한두개안면성형외과학회지
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• 제17권2호
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• pp.82-85
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• 2016

We report two cases of cleidocranial dysplasia, which was managed without significant craniofacial osteotomy. A mother and daughter, both of normal intelligence, presented with central forehead depression, mid-face hypoplasia, and blepharoptosis. The fact that they have an identically deformed face implied a genetic basis. In both patients, radiologic evaluation revealed the underdeveloped maxilla, persistent fontanelle opening, and cleidal aplasia. Clinical findings and radiologic studies were consistent with the diagnosis of cleidocranial dysplasia. Both patients underwent forehead plasty via bicoronal approach, augmentation rhinoplasty using tip plasty, and epicanthoplasty. In addition, the mother underwent malar augmentation using Medpor implantation and reduction genioplasty. The patients did not experience any postoperative complication and remained satisfied with the operation at 6-year follow-up.

• 대한소아치과학회지
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• 제28권1호
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• pp.180-184
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• 2001

쇄골두개 이형성증(Cleidocranial Dysplasia)은 autosomal dominant skeletal dysplasia로 쇄골의 부재 두개골 봉합지연 및 치아이상의 특징을 갖는 질환이다. 치아이상 중에 유치열 발달은 정상인데 반해 영구치 맹출 실패가 가장 특징적인 소견이며 다수의 과잉치의 존재, 치아형태이상과 치근형태이상 등이 존재한다. 영구치의 지연 혹은 맹출 부전의 원인으로 (1) 다수의 과잉치 존재, (2) cellular cementum이 없는 기형적 치근형태, (3) 악골의 높은 골밀도, (4) 유치와 골의 비정상적 흡수를 들 수 있으며 저하된 골대사가주원인이며 두번째로 다수의 과잉치의 존재를 들 수 있다. 이의 치료방법은 더 많은 치아 맹출의 환경조성을 위한 교정치료, 외과적 처치 및 보철적 수복이 필요하다. 본 증례는 쇄골두개 이형성증으로 진단받은 7세 10개월 여 환아로 영구치 미맹출을 주소로 본원에 내원하였다. 임상구강 검사에서 유치의 만기잔존, 악궁의 협착, 전치부 반대교합과 다수의 치아우식증이 관찰되었으며 악골의 방사선사진에서 유치의 만기잔존 및 상하악에 다수의 과잉치가 관찰되었고 두부방사선사진에서 미폐쇄된 봉합과 봉간골(wormian bone)이 관찰되었으며 흥부방사선사진에서 쇄골의 부재가 보였다. 이 환아의 성장에 따른 치열 발달을 이해하고 시기에 따른 적절한 치과적 처치에 대해서 본 증례에서 보고하는 바이다.

• 대한소아치과학회지
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• 제25권1호
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• pp.144-151
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• 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.

• 대한장애인치과학회지
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• 제3권2호
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• pp.91-96
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• 2007

치과의사는 쇄골두개 이형성증의 특징에 대해 잘 알고 있어야 한다. 쇄골두개 이형성증 환자는 신체 및 정신적으로 특별한 이상을 보이지 않기 때문에, 영구치교환시기를 한참 지나 다수치아에서의 유치만기잔존 및 영구치의 미 맹출을 주소로 치과에 내원하게 되는 경우가 많은 것이 사실이다. 이런 의심이 들 때는 정확한 진단을 위해 반드시 다양한 방사선사진을 촬영해 보아야 하겠다. 또한 긴 치료기간으로 인해 환자의 협조와 여러 분야에 있어서 전문가들의 협력이 반드시 필요할 것이다.