• Archives of Plastic Surgery
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• 제35권1호
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• pp.96-99
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• 2008

Purpose: A meningoencephalocele is a congenital malformation involving herniation of the meninges and cerebral tissue through a defect in the skull. For the patient with frontoethmoidal meningoencephalocele with hypertelorism, the removal of the meningoencephalocele without correction of the combined hypertelorism is not enough for getting a good cosmetic appearance. Correction of the hypertelorism is needed for cosmetic problem. We experienced a case of simultaneous correction of frontoethmoidal meningoencephalocele with hypertelorism. Methods: The meningoencephalocele was removed and the hypertelorism was corrected by central segment technique. The bone defects were filled with autogenous bone dusts. And the nose was reconstructed by a calvarial bone graft. Results: The patient had a good cosmetic appearance without any neurological complications without serious complications. Conclusion: We experienced a case of simultaneous correction of frontoethmoidal meningoencephalocele with hypertelorism. And a brief review of related literatures is given.

• Archives of Plastic Surgery
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• 제33권2호
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• pp.237-240
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• 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.

• 대한두개안면성형외과학회지
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• 제20권6호
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• pp.397-400
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• 2019

Frontonasal dysplasia is an uncommon congenital anomaly with diverse clinical phenotypes and highly variable clinical characteristics, including hypertelorism, a broad nasal root, median facial cleft, a missing or underdeveloped nasal tip, and a widow's peak hairline. Frontonasal dysplasia is mostly inherited and caused by the ALX genes (ALX1, ALX3, and ALX4). We report a rare case of a frontonasal dysplasia patient with mild hypertelorism, a broad nasal root, an underdeveloped nasal tip, an accessory nasal tag, and a widow's peak. We used soft tissue re-draping to achieve aesthetic improvements.

• Imaging Science in Dentistry
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• 제34권3호
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• pp.165-169
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• 2004

Craniofacial dysostosis is considered to be one of rarely observed syndromes characterized by premature closing of all cranial sutures. The first patient was a 4-year-old male infant who had been complaining of empyema. Clinical findings showed exophthalmos, hypertelorism and facial asymmetry. Conventional radiographs demonstrated abscence of cranial sutures and underdeveloped maxilla. CT scan demonstrated the digital impressions of the inner surface of the cranial vault, enlarged and depressed sella turcica. The second patient was a 2-year-old female infant who had been complaining of facial deformity. Clinical findings showed hypertelorism and underdeveloped maxilla. Radiographs showed premature synostosis of all cranial sutures, depressed and enlarged sella turcica, and hypoplastic maxilla. 3 years after operation, her look improved. However, resurgery may be considered to decreasing intracranial pressure and for correction of facial deformity. Two interesting cases showing ‘cloverleaf’ skulls were presented.

• 치과방사선
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• 제18권1호
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• pp.5-12
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• 1988

Several cases of jaw cyst-basal cell nevus-bifid rib syndrome are presented. This syndrome consists principally of multiple jaw cysts, basal cell nevi, and bifid ribs but no one component is present in all patients. The purpose of this paper is to review the multiple characteristics of this syndrome and present three cases in a family and additional 4 cases. The many malformations associated with the syndrome have variable expressivity. In the cases, multiple jaw cysts, palmar and plantar pittings, bridging of sella, temporoparietal bossing, hypertelorism, cleft palate, and dystopia canthorum have been observed.

• Journal of Chest Surgery
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• 제26권11호
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• pp.886-889
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• 1993

The DiGeorge syndrome is a rare congenital anomaly of absent or hypoplastic thymus and parathyroid glands. Authors experienced a case of DiGeorge syndrome with complex cardiac anomaly. The complex cardiac anomaly was tetralogy of Fallot with origin of the right pulmonaly artery from the posterolateral ascending aorta.His face showed hypertelorism,short philtrum,"fish-like"mouth and micrognathia. This patient underwent total correction of tetralogy of Fallot and end-to-side anastomosis between right pulmonaly artery and side of main pulmonaly artery. He expired on postoperative second day due to right heart failure and hypoxia.d hypoxia.

• 대한소아치과학회지
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• 제36권1호
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• pp.133-138
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• 2009

Crouzon 증후군은 1912년 프랑스의 신경학자 Crouzon에 의해 처음 알려진 질환으로 10q25-10q26 염색체에 위치한 FGFR2 유전자의 돌연변이에 의해 발생되며 발생률은 25,000명당 1명 꼴로 상염색체 우성 유전 경향을 보이는 유전적 질환이다. 본 증례는 서울대학교 치과병원 소아치과에 내원한 9세의 Crouzon 증후군 환아에 대한 것으로 특징적으로 두개봉합이 조기에 폐쇄되는 두개골유합증(craniosynostosis)으로 인한 두개안면골 이상, 안구돌출증, 상악골 저성장 및 상대적인 하악전 돌증을 나타내었다. 이에 Crouzon 증후군의 의과 및 치과적 소견을 살펴보고, 이에 대해 과거의 문헌을 고찰하여 다소의 지견을 얻었기에 보고하는 바이다.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제36권1호
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• pp.7-12
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• 2014

Nevoid basal cell carcinoma syndrome (NBCCS) is inherited as an autosomal dominant trait with variable conditions, including multiple basal cell carcinoma, numerous keratocystic odontogenic tumors (KOTs) in the jaws, ectopic calcification of the falx cerebri, bifid ribs, macrocephaly, kyphoscoliosis, cleft palate, frontal and temporal bossing, mild ocular hypertelorism, mild mandibular prognathism, vertebral fusion, and so on. A 16-year-old boy visited the Dong-A University Medical Center, requiring diagnosis and treatment of multiple cystic lesions. He presented with many conditions related to NBCCS, including multiple KOTs, bifid rib, cleft lip, frontal bossing, mild ocular hypertelorism, and mild mandibular prognathism. No characteristic cutaneous manifestations (nevoid basal cell carcinoma) were observed in this patient. We report on a case of multiple KOTs associated with NBCCS with a review of the 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.

• Clinical and Experimental Pediatrics
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• 제46권3호
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• pp.291-294
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• 2003

21번 환 염색체는 심한 기형에서부터 정상에 이르기까지 다양한 표현형을 보인다. 저자들은 발달 지연과 다발성 선천성 기형을 가진 환자에서 말초혈액 염색체 검사상 21번 염색체 장완의 결실이 동반된 21번 환 염색체를 경험하였기에 이에 문헌 고찰과 함께 보고하는 바이다.