• Journal of Chest Surgery
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• v.35 no.11
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• pp.839-841
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• 2002

Generally, patients who have airway compression with severe kyphoscoliosis can be improved through surgery for the thoracolumbar deformity. However, abnormal thoracic configuration due to severe kyphoscoliosis can cause respiratory distress secondary to severe compression of central airway in uncorrectable case. We tried to elevate the chest wall and obtained relatively good result in case of airway compression with abnormal thoracic configuration which was difficult to correct.

• Journal of Chest Surgery
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• v.44 no.5
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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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• v.19 no.5
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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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• v.9 no.2
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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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• v.32 no.9
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• pp.844-846
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• 1999

Chronic irritation to arterial wall by foreign material may give rise to delayed vascular injury. A 50 years old male patient with kyphoscoliosis had undergone fixation of orthopedic Cotrel-Dubousset(CD) rods and screws. Fourteen months after that surgery, a false aneurysm of the descending thoracic aorta associated with pulsating hematoma in the muscular chest wall developed. The false aneurysm was managed by resecting the diseased aortic segment and replacing the vascular graft.

• Neonatal Medicine
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• v.17 no.1
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• pp.141-146
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• 2010

Metatropic dysplasia is a rare spondylo epi metaphyseal dysplasia characterized by progressive kyphoscoliosis, short limbs with relatively large hands and feet and limited of motion and enlargement of the large joints. It is diagnosed based on the characteristic clinical and radiological features. Even though benign cases of this disease are frequently reported, metatropic dysplasia can often have a fatal outcome. We describe a sporadic case of the well-delineated lethal metatropic dysplasia.

• Journal of Interdisciplinary Genomics
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• v.3 no.2
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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.