• Journal of Chest Surgery
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• 제35권11호
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• pp.839-841
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• 2002

일반적으로 척추기형에 의한 기계적인 기도협착 환자의 경우 척추기형을 교정함으로써 증상을 완화시킬 수 있다. 그러나 흉곽기형의 원인이 되는 척추기형이 너무 심하여 교정이 어려울 경우에는 심한 기도협착으로 인해 호흡부전을 유발하고 치명적인 결과를 초래할 수 있다. 본 교실에서는 교정이 불가능할 정도의 심한 척추기형으로 인한 기도협착 환자에서 흉벽거상술을 통해 비교적 좋은 성적을 얻었기에 이에 문헌고찰과 함께 보고하고자 한다.

• Journal of Chest Surgery
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• 제44권5호
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• pp.383-386
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• 2011

A 46-year-old man presented with a lateral thoracic meningocele associated with cutaneous neurofibromatosis type I and kyphoscoliosis of the thoracic spine upon medical examination. In the majority of such cases, these meningoceles remain asymptomatic, but surgery is indicated when giant or symptomatic cysts are present. The large thoracic meningocele was successfully extirpated through the transthoracic approach in combination with lumbar puncture and cerebrospinal drainage for decompression of the cyst.

• Journal of Dental Anesthesia and Pain Medicine
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• 제19권5호
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• pp.307-312
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• 2019

Klippel-Feil syndrome is characterized by congenital fusion of two or more cervical vertebrae, a low hair line at the back of the head, restricted neck mobility, and other congenital anomalies. We report a 16-year-old young man with Klippel-Feil syndrome, Sprengel deformity of the right scapula, thoracic kyphoscoliosis, and mandibular prognathism with an anterior open bite. He was treated with orthodontic treatment and maxillofacial surgery. An anticipated difficult airway due to a short neck with restricted neck movements and extrinsic restrictive lung disease due to severe thoracic kyphoscoliosis increased his anesthesia risk. Due to his deviated nasal septum and contralateral inferior turbinate hypertrophy, we chose awake fiber optic orotracheal intubation followed by submental intubation. Considering the cervical vertebral fusion, he was carefully positioned during surgery to avoid potential spinal injury. He recovered well and his postoperative course was uneventful.

• Journal of Genetic Medicine
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• 제9권2호
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• pp.93-97
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• 2012

Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.

• Journal of Chest Surgery
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• 제32권9호
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• pp.844-846
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• 1999

이물질(foreign body)의 만성적인 자극은 혈관에 지연성 손상을 가져올 수 있다. 척추 측후만증을 교정하고 자 약 14개월 전에 흉추에 CD 금속강과 나사못(Cotrel-Dubousset rods and screws)을 장치했던 환자에서 CD 나사못의 만성적인 자극으로 흉벽의 박동성 혈종을 합병한 가성 대동맥류가 발생하였다. 이 환자에서 가성 대동맥류가 발생한 하행대동맥 부위를 절제하고 인조혈관 대치술로 치료하였기에 보고한다.

• Neonatal Medicine
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• 제17권1호
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• pp.141-146
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• 2010

영양위축성 형성이상은 드물게 발생하는 척추-골단-골중간 형성이상의 일종으로 진행성의 척추측후만증, 운동제한을 동반한 짧은 사지, 비교적 큰 손과 발, 큰 관절들의 비대 등을 특징으로 한다. 이 기형은 특징적인 임상소견과 방사선소견을 통해 진단할 수 있다. 이 기형은 양성 경과를 보인 다수의 증례들이 보고되어 왔고, 소수에서 치명적인 경과를 보이는 증례도 보고되었다. 저자들은 치사성의 영양위축성 형성이상 1례를 경험하였기에 보고하는 바이다.

• Journal of Interdisciplinary Genomics
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• 제3권2호
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• pp.30-34
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• 2021

Campomelic dysplasia (CD) is a rare genetic disorder characterized by multiple skeletal anomalies and the abnormal development of male reproductive organs. To date, the SOX9 gene is the only known causal gene for CD, and approximately 90 causative mutations in SOX9 have been identified worldwide. CD is diagnosed based on clinical characteristics of skeletal dysplasia (e.g., short bowed long bones, kyphoscoliosis, bell-shaped thoracic cage with 11 pairs of ribs, and hypoplastic scapulars), typical facial features of Pierre Robin sequence with cleft palate, and gonadal dysgenesis in 46,XY individuals. Most patients with CD exhibit life-threatening respiratory failure owing to laryngotracheomalacia and hypoplastic thorax during the neonatal period. Although fatal complications decrease after infancy, several medical conditions continue to require proper management. A better understanding of this rare but lethal condition may lead to more appropriate treatments for patients.