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1.
JOURNAL OF RARE DISEASES ; (4): 602-606, 2023.
Article in English | WPRIM | ID: wpr-1004935

ABSTRACT

This article reported the treatment of Gorham Stout syndrome (GSS) with kyphoscoliosis. The patient was an 11-year-old male who was presented with kyphoscoliosis, first developed 4 years ago, accompanied by incomplete paralysis of both lower limbs. The syndrome worsened in the previous year. He had a history of chylothorax, ventilation dysfunction, and osteoporosis. The patient underwent skull traction in another hospital for 7 months, which was ineffective. Finally, he underwent posterior correction, internal fixation, and bone graft fusion (C4-T8) in our hospital. The postoperative clinical outcomes and the posterior correction were satisfactory, with significant improvement in incomplete paralysis of both lower limbs. This article aims to improve the understanding of GSS and provided reference for its diagnosis and treatment through a typical case report and review of previous literature.

2.
JOURNAL OF RARE DISEASES ; (4): 539-546, 2023.
Article in English | WPRIM | ID: wpr-1004930

ABSTRACT

  Objective  To evaluate the clinical outcomes and complications of posterior spinal fusion surgery in the treatment of neurofibromatosis type 1(NF1)thoracolumbar kyphoscoliosis, and to explore the mode of perioperative care for nurses provided to the patients.  Methods  We used the retrospective analysis on the 134 patients with NF1 thoracolumbar kyphoscoliosis admitted to our department from March 2012 to April 2022 and analyzed the clinical outcomes and perioperative complications by using the related statistics. We evaluated the Perioperative care by the nurses in the treatment of NF1 to explore the mode of nursing to the patients with the NF1, by using specific observation points and evaluation indicators.  Results  NF1 kyphoscoliosis patients had poor preoperative nutritional status and lung function. NF1 kyphoscoliosis underwent longer operation time, lost more blood in operation, had higher osteotomy grade and more postoperative complications. All the patients successfully completed the operation in our group. The correction rate of scoliosis was (52.8±22.7)%, and the correction rate of kyphosis was (57.3±34.6)%. 25 patients had complications but no such serious complications as nerve damage.  Conclusions  The practice of the perioperative nursing to NF1 type scoliosis patients facilitates the shortening of the recovery period, the prevention or timely detection of complications, and improvement of the therapeutic effect.

3.
Article | IMSEAR | ID: sea-225607

ABSTRACT

Introduction: Kyphosis is a sharp posterior angulation due to localized collapse or wedging of one or more vertebrae and scoliosis is the lateral curvature of the spine. These may occur due to a congenital defect, fracture, and sometimes pathological or spinal tuberculosis. Materials and Methods: During routine cadaver dissection, four cases of kyphoscoliosis were identified. In the first case, a protrusion on the posterior surface of the trunk of the cadaver at L1 level was observed in a 60- year-old male. The lungs were collapsed and adherent with the pleura and thoracic wall. The posterior wall of the stomach was adherent to the pancreas and a depression was noted on the anterior surface of abdominal aorta. The T12 and L1 vertebrae were fused, and the spine was deviated to the left side. The anterior aspect of the body of L1 vertebrae was marginally eroded. The second case of kyphoscoliosis was from 80-year-old female cadaver. The descending and abdominal aorta had an abnormal course along the vertebral column, third and fourth cases were observed with slight protrusion and scoliosis but not much changes in the vertebral column. Results: The cause of the deformity was confirmed by pathological examination of the tissues showed inter vertebral disc degeneration with calcification and ossification and osteopenia. The underlying etiology can be tuberculosis, injuries, or infections. Conclusion: Severe kyphoscoliosis can affect wide range of systems in the body. It will affect not only the respiratory system also pressure on great vessels as a consequence of bony deformity.

4.
China Journal of Orthopaedics and Traumatology ; (12): 99-105, 2020.
Article in Chinese | WPRIM | ID: wpr-792987

ABSTRACT

OBJECTIVE@#To explore the application value of 3D printing technology in preoperative surgery plan and intraoperative auxiliary operation for adult kyphoscoliosis deformity.@*METHODS@#The clinical data of 12 adult patients with kyphoscoliosis deformity treated from September 2017 to January 2019 were retrospectively analyzed. There were 3 males and 9 females, aged from 21 to 63 years old with an average of (47.67±13.32) years old. Among them, 4 cases were congenital kyphoscoliosis, 2 cases were old tuberculosis thoracolumbar kyphosis ; 2 cases were idiopathic kyphoscoliosis, 4 cases were degenerative kyphoscoliosis. The CT scan data of the patient's spine was imported into Mimics17.0 software to establish the three dimensional model of the spine, and the spine model was produced by 3D printer. Using the spine model simulated operation, preoperative surgery program planning and formulated a precise surgery, and further analysed postoperative imaging parameters improvement. All the patients were followed up for more than 1 year. Before and after operation and at the last follow-up, the scoliosis Cobb angle, maximum kyphosis Cobb angle, and coronal plane balance (distance between C 7 plumbline and center sacral vertical line, CPL-CSVL), sagittal plane balance (sagittal vertical axis, SVA), pelvic parameters and other related imaging parameters were measured to further evaluate its orthopedic effect.@*RESULTS@#Twelve patients with spine deformity were treated with different osteotomy and internal fixation fusion methods under the guidance of a 1∶1 spine model (pedicle screw placement of 4 patients with severe deformity were assisted by pedicle screw guide plates), nail placement and osteotomy have good effects, no major tissue damage such as blood vessels, nerves and spinal cord during and after surgery, no complications such as cerebrospinal fluid leakage and infection. Preoperative Cobb angle of scoliosis was (56.5±22.5) °, Cobb angle of kyphosis was (65.2±19.5) °, C PL-CSVL was (45.8±16.9) mm, SVA was (48.7±25.4) mm. Postoperative at 4 weeks, Cobb angle of scoliosis was (20.8±11.5) °, and Cobb angle of kyphosis was (22.0±6.6) °, with correction rates of (65.1±9.7)% and (64.6± 10.6)%, respectively ; C PL-CSVL was (22.3±8.9) mm, and SVA was (23.3±13.1) mm, all of which were significantly improved compared with preoperative results. The mean follow-up time was (18.5±7.9) months in 12 patients. At the last follow-up, the Cobb angles of scoliosis and kyphosis were (22.2±10.8) ° and (23.6±7.7) °, respectively, C PL-CSVL was (23.5±10.8) mm, and SVA was (24.7±12.5) mm. The results were statistically significant compared preoperative (0.05).@*CONCLUSION@#The 3D print model can visually and clearly show the vertebral morphology and structure of adult kyphoscolisis and its spatial relationship with the adjacent vertebrae, blood vessels, and nerves, which provides a good and intuitive stereoscopic anatomical structure observation for the individualization of the surgical plan. Pre-simulation of operations to determine the internal fixation, fusion segment and osteotomy orthopedic way, may to provide a reference for actual clinical surgery, and can improve the accuracy and safety of surgery.

5.
Malaysian Orthopaedic Journal ; : 88-91, 2020.
Article in English | WPRIM | ID: wpr-822279

ABSTRACT

@#Treatment of severe spinal deformities associated with neurofibromatosis has proven to be challenging. An 11-yearold girl, with neurofibromatosis and severe cervicothoracic kyphoscoliosis, was initially treated with posterior instrumentation and fusion. Implant failure developed within a year, requiring an anterior stabilisation and fusion with a non-vascularised fibular strut graft for better stability and increased likelihood of achieving union. The posterior instrumentation was removed due to its prominence and wound breakdown. Following the removal of the posterior implant, the fibular graft fractured. The patient was maintained on a cervical collar until union was achieved. Posterior spinal fusion alone in severe spinal deformities in neurofibromatosis has a high risk of failure. A combined anterior and posterior fusion may increase the chance of success, with better stability and union rate.

6.
Article | IMSEAR | ID: sea-211251

ABSTRACT

In most cases, kyphoscoliosis is idiopathic. However, this is a diagnosis of exclusion and can be made only if no cause can be identified. Kyphoscoliosis can occur due to various causes. Isolated sternal anomalies may also cause kyphoscoliosis secondary to the bony deformity though this has not previously been reported in literature. We have reported a case of kyphoscoliosis secondary to isolated sternal hypoplasia with complete absence of bony and cartilaginous elements of the body and xiphoid process of the sternum without any associated deformities of mediastinal structures, lung parenchyma or soft tissues in a young male patient. Careful evaluation of patients with kyphoscoliosis can ensure timely diagnosis of unusual and potentially treatable causes for the same such as sternal anomalies. Addition of lateral chest radiographs to the imaging protocol for evaluation of kyphoscoliosis can play a major role in timely diagnosis of such cases.

7.
Article | IMSEAR | ID: sea-188755

ABSTRACT

Isolated masseter spasm is a rare entity encountered in patients with neuromuscular disorders and is frequently associated with use of succinylcholine or halogenated inhalational anaesthetic during induction. We present a case of 32-year old primigravida obstetric patient with kypho-scoliosis posted for lower segment caesarean section that developed masseter muscle spasm (MMS) following administration of a standard dose of succinylcholine. The episode resolved spontaneously after 6-7 min without progression to malignant hyperthermia. The report highlights that an event of masseter muscle spasm, though, rarely encountered in life-time practice of an anaesthesiologist, may be successfully managed by maintaining oxygenation and ventilation till the crisis is tided over

8.
Journal of Dental Anesthesia and Pain Medicine ; : 307-312, 2019.
Article in English | WPRIM | ID: wpr-764390

ABSTRACT

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.


Subject(s)
Adolescent , Female , Humans , Anesthesia , Cervical Vertebrae , Congenital Abnormalities , Genioplasty , Hair , Head , Hypertrophy , Intubation , Klippel-Feil Syndrome , Lung Diseases , Mandible , Nasal Septum , Neck , Open Bite , Orthognathic Surgery , Osteotomy , Prognathism , Scapula , Spinal Injuries , Surgery, Oral , Turbinates
9.
Chinese Journal of Surgery ; (12): 139-146, 2018.
Article in Chinese | WPRIM | ID: wpr-809826

ABSTRACT

Objective@#To compare the clinical outcome and health related quality of life(HRQoL)of patients with degenerative spinal deformity who underwent spino-pelvic fixation utilized second sacral alar-iliac(S2AI)with patient utilized traditional iliac screw(IS).@*Methods@#Patients diagnosed as degenerative spinal deformity who underwent spino-pelvic fixation utilized either S2AI screw or Iliac screw at Department of Spine Surgery of Drum Tower hospital from January 2013 to January 2016 were retrospectively analyzed. Patients were divided into two groups according to the pelvic fixation technique. Cobb′s angle, coronal balance distance(CBD), regional kyphosis(RK), sagittal vertical axis(SVA)were recorded at pre-operation, post-operation and last follow up. The MOS item short from the health survey(SF-36), visual analogue scale(VAS), Oswestry disability index(ODI) were also recorded at pre-operation and last follow up. Five physical examinations were administered to all patient at the last follow up to diagnose sacroiliac joint dysfunction, three tests resulting positive were regarded as dysfunction. Repeated measurement analysis of variance, t-test or non-parametric test was used to analyzed the data, respectively.@*Results@#A total of 22 patients who met the inclusion were recruited in this study. Fourteen patients were utilized S2AI screw and 8 patients were utilized iliac screw.There were no significant differences in age, gender, follow up time between two groups. Cobb′s angle, CBD, RK, SVA at pre- and post-operation and last follow up showed no significant difference between two groups.SF-36, ODI, VAS at pre-operation and last follow up showed no significant difference between two groups. Compared with baseline, Cobb′s angle(44.4°±14.0° vs. 20.2°±7.2° vs. 18.3°±7.1°), C7PL-CSVL((25.3±16.0)mm vs. (10.3±5.7)mm vs. (9.2±4.2)mm), RK(33.0°(-12.0°, 50.0°) vs. 20.0°(-33.0°, 8.5°) vs. -19.0°(-29.0°, 19.0°)), SVA((31.5±34.4)mm vs. (12.1±8.4)mm vs. (10.9±7.2)mm), SF36-physical function summary(PCS)(39.8±14.3 vs. 68.2±21.5), SF36-mental component summary(MCS)(44.9±14.8 vs. 73.9±19.9), ODI(37.7±16.9 vs. 19.8±15.8), VAS(4.8±2.1 vs. 1.8±0.9) were significantly improved postoperatively in S2AI group(P<0.05). In the IS group, compared with baseline, Cobb′s angle(54.3°±18.3° vs. 26.1°±13.2° vs. 25.6°±18.3°), C7PL-CSVL((31.0±16.0)mm vs. (13.9±7.0)mm vs. (12.4±6.6)mm), RK (47.0°(15.0°, 57.0°) vs. 4.0°(-10.0°, 16.0°) vs. 7.0°(-9.0°, 12.0°)), SVA((27.1±23.9)mm vs.(13.1±7.5)mm vs. (13.6±6.0)mm), SF36-PCS(29.7±7.1 vs. 61.1±11.2), SF36-MCS(35.9±7.1 vs. 64.0±11.1), ODI(48.6±13.4 vs. 19.0±10.7), VAS(4.9±1.8 vs. 2.6±1.3) were also significantly improved postoperatively(all P<0.05). There were two patients need revision surgery in the IS group due to the instrumentation-related complication. None of the patients in the S2AI group needed revision surgery. There were no instances of sacroiliac joint dysfunction in both groups at last follow up.@*Conclusion@#Spino-pelvic fixation utilizing S2AI screw could provide similar correction rate to iliac screw and the sacroiliac joint penetration due to S2AI won′t affect the HRQoL in patient with degenerative deformity who utilized S2AI.

10.
Article in English | IMSEAR | ID: sea-157804

ABSTRACT

Kyphoscoliosis is forward and lateral bending of the spine commonly affecting the dorsal and lumbar spine. Spinal deformities are likely to be associated with physiologic derangements in cardiac and pulmonary function and may cause difficulties with both tracheal intubation and regional anaesthesia. Due to problems associated with respiratory system, spinal anaesthesia is used widely, though technically difficult. We present a case of thoracolumbar kyphoscoliosis posted for cystolithotomy successfully managed with spinal anaesthesia.

11.
Sleep Medicine and Psychophysiology ; : 30-34, 2015.
Article in Korean | WPRIM | ID: wpr-153419

ABSTRACT

Obesity hypoventilation syndrome (OHS) is characterized by severe obesity, excessive daytime sleepiness, hypoxemia and hypercapnea. Because OHS mimics pulmonary hypertension or cor pulmonale, clinicians should recognize and treat this syndrome appropriately. A 58-year-old female visited the emergency room because of dyspnea. She was obese and had kyphoscoliosis. The patient also experienced snoring, recurrent choking during sleep and daytime hypersomnolence which worsened after gaining weight in the recent year. The arterial blood gas analysis showed she experienced hypoxemia and hypercapnea not only during nighttime but also daytime. We suspected OHS and the patient underwent polysomnography to confirm whether obstructive sleep apnea was present. During the polysomnography test, sleep obstructive apnea was observed and apnea-hypopnea index was 9.2/hr. The patient was treated with bilevel positive airway pressure therapy (BiPAP). After BiPAP for 4 days, hypoxemia and hypercapnia were resolved and she is currently well without BiPAP. We report a case successfully treated with clinical improvement by presuming OHS early in a patient who had typical OHS symptoms, even while having other conditions which could cause hypoventilation.


Subject(s)
Female , Humans , Middle Aged , Airway Obstruction , Hypoxia , Apnea , Blood Gas Analysis , Disorders of Excessive Somnolence , Dyspnea , Emergency Service, Hospital , Hypercapnia , Hypertension, Pulmonary , Hypoventilation , Obesity Hypoventilation Syndrome , Obesity, Morbid , Polysomnography , Pulmonary Heart Disease , Sleep Apnea, Obstructive , Snoring
12.
Asian Spine Journal ; : 565-572, 2015.
Article in English | WPRIM | ID: wpr-39387

ABSTRACT

STUDY DESIGN: Prospective case series. PURPOSE: To examine the clinical efficacy of mini-open anterior retroperitoneal lumbar interbody fusion: oblique lateral interbody fusion (OLIF) for degenerated lumbar spinal kyphoscoliosis. OVERVIEW OF LITERATURE: The existing surgical procedures for the treatment of spinal kyphotic deformity, including Smith-Petersen osteotomy, pedicle subtraction osteotomy, and vertebral column resection procedures, are invasive in nature. Extreme lateral interbody fusion to provide less invasive treatment of the deformity has been reported, but complications including spinal nerve and psoas muscle injury have been noted. In the current study, we examined the clinical efficacy and complications of OLIF for degenerated lumbar spinal kyphoscoliosis. METHODS: Twelve patients with degenerated lumbar spinal kyphoscoliosis were examined. All patients underwent OLIF surgery (using a cage and bone graft from the iliac crest) with open pedicle screws or percutaneous pedicle screws, without real-time monitoring by electromyography. Visual analog scale score and Oswestry disability index were evaluated before and 12 months after surgery, and fusion rate at OLIF cage, correction of the deformity, total blood loss, and surgical complications were also evaluated. RESULTS: Pain scores significantly improved after surgery (p<0.05). Fusion rate was found to be 90%, balance parameters also improved after surgery (p<0.05), and average total blood loss was less than 350 mL. There was no spinal nerve, major vessel, peritoneal, or urinary injury, or breakage of instrumentation. CONCLUSIONS: OLIF surgery for degenerated lumbar spinal kyphoscoliosis is less invasive than other procedures and good surgical results were produced without major complications.


Subject(s)
Humans , Congenital Abnormalities , Electromyography , Osteotomy , Prospective Studies , Psoas Muscles , Spinal Nerves , Spine , Transplants , Visual Analog Scale
13.
Chongqing Medicine ; (36): 4920-4921, 2014.
Article in Chinese | WPRIM | ID: wpr-457859

ABSTRACT

Objective To explore the clinical efficacy and application value of hemivertebra resection for treating congenital ky‐phoscoliosis .Methods 30 cases of congenital kyphoscoliosis and hemivertebral deformity in our hospital from January 2011 to Jan‐uary 2013 were selected as the research subjects .Among them ,12 cases of simple vertebral and non‐structural bending were per‐formed the posterior hemivertebral resection and short segment pedicle screw fixation ;3 cases of complicating lordosis and hemiver‐tebral protruding to the ventral side were performed the anterior hemivertebral resection and bone graft fusion fixation ;15 cases of complicating structural compensatory curve were performed the posterior transpedicle hemivertebral resection and compensatory bend long segment fixation and fusion .The clinical effects of surgical treatment for all patients were performed the comparative a‐nalysis .Results The mean postoperative kyphosis Cobb angle and the average final follow‐up Cobb angle were (8 .6 ± 3 .14) °and (11 .2 ± 7 .23) °respectively .The ultimate orthopedic rate of kyphosis was 58 .6% ;the average postoperative Cobb angle and and the average final follow‐up Cobb angle of scoliosis were (12 .8 ± 5 .47)°and (16 .2 ± 6 .24)°respectively ,the final orthopedic rate of scoliosis was 66 .5% .The mean Cobb angle of kyphosis and scoliosis after operation was significantly less than that before opera‐tion ,the difference was statistically significant(P< 0 .05) .Kyphosis and scoliosis were significantly improved .No significant post‐operative complications occurred .The effects were satisfied by the patients .Conclusion The hemivertebral resection has significant effect for treating congenital kyphoscoliosis with high kyphoscoliosis orthopedic rate and is worthy of further clinical study .

14.
Chongqing Medicine ; (36): 674-675,678, 2014.
Article in Chinese | WPRIM | ID: wpr-572827

ABSTRACT

Objective To investigate the effect of dexmedetomidine on awareness during intraoperative Wake-up tests in patients undergoing spinal surgery under propofol-remifentanil anesthesia .Methods 36 patients ,requiring intraoperative arousal test during posterior spinal surgery were randomly divided into the group D (DEX ,n= 18) and C (NS ,n= 18) .DEX 1 μg/kg followed by 0 .2 μg · kg -1 · h-1 and equal volume NS were infused respectively 10 min before anesthesia induction and maintenance of anesthe-sia in two groups .Hemodynamic parameters were monitored 5 min(T1) before anesthesia induction ,3 min(T2)after anesthesia in-duction ,at the beginning of wake-up test(T3) ,at the end of the test(T4) and 5 min(T5) after deepen anesthesia respectively . Meanwhile the wake-up time ,success rate of arousal ,incidence agitation and the dosage of nitroglycerin during wake-up were also recorded .Results Successive rate of arousal awakening time between two group had no statistically significance (P>0 .05) .less in-cidence of agitation was found in group D compared with group C ,the dosage of nitroglycerin used during wake-up in group D was less than that in group C(P<0 .05) .Conclusion Dexmedetomidine auxiliary propofol remifentanil anesthesia can effectively implement intraoperative wake up ,during the awakening the hemodynamic was more smoothly ,and it has lower incidence of adverse events .

15.
Korean Journal of Medicine ; : 318-322, 2014.
Article in Korean | WPRIM | ID: wpr-63193

ABSTRACT

Percutaneous endoscopic gastrostomy (PEG), which was first introduced in 1980, was quickly adopted for use in pediatric and adult patients. However, problems such as severe kyphoscoliosis, interposed organs, or other forms of distorted anatomy, may prevent effective and safe PEG tube placement. In such cases, laparoscopy-assisted PEG (LAPEG) is a useful optional procedure for patients with distorted anatomy and an initial unsuccessful PEG attempt. Furthermore, less invasive measures are preferable over surgical gastrostomy. We present a 27-year-old-male patient with severe kyphoscoliosis and a history of PEG-related complications with a colocutaneous fistula appearing 10 months earlier in whom a feeding tube was successfully placed by LAPEG. There were no LAPEG-related complications in the perioperative period, either technical or metabolic. After discharge, the patient was effectively fed using the bolus method.


Subject(s)
Adult , Humans , Endoscopy , Fistula , Gastrostomy , Laparoscopy , Perioperative Period
16.
Indian J Med Sci ; 2012 Nov-Dec; 66(11) 286-288
Article in English | IMSEAR | ID: sea-147855

ABSTRACT

Non communicable diseases in most of the developing countries have surpassed the morbidity and mortality arising from communicable diseases. However there are people who continue to suffer from the residual disabilities of some communicable disease acquired at younger age like polio and develop non communicable diseases like COPD and coronary syndrome at older age primarily because of their tobacco habits. Both of these combination of communicable and non communicable diseases are preventable if timely preventive measures and healthy life style is adopted. This case highlights one such case where patient despite suffering from polio and restrictive lung disease started using tobacco and suffered from obstructive lung disease and coronary syndrome.

17.
Journal of Genetic Medicine ; : 93-97, 2012.
Article in English | WPRIM | ID: wpr-137164

ABSTRACT

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.


Subject(s)
Humans , Cartilage , Cleft Palate , Collagen Type II , Congenital Abnormalities , Connective Tissue , Dwarfism , Hearing Loss , Joints , Parturition , Plagiocephaly , Spine
18.
Journal of Genetic Medicine ; : 93-97, 2012.
Article in English | WPRIM | ID: wpr-137161

ABSTRACT

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.


Subject(s)
Humans , Cartilage , Cleft Palate , Collagen Type II , Congenital Abnormalities , Connective Tissue , Dwarfism , Hearing Loss , Joints , Parturition , Plagiocephaly , Spine
19.
Journal of the Korean Society of Neonatology ; : 141-146, 2010.
Article in English | WPRIM | ID: wpr-223413

ABSTRACT

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.


Subject(s)
Humans , Infant, Newborn , Dwarfism , Extremities , Fatal Outcome , Foot , Hand , Joints , Osteochondrodysplasias
20.
The Journal of the Korean Orthopaedic Association ; : 822-827, 2007.
Article in Korean | WPRIM | ID: wpr-656772

ABSTRACT

The dystrophic type of neurofibromatosis is a well-known bizarre deformity of the spine. There has been little literature about spontaneous vertebral column dislocation in the thoracic spine with progressive neurological symptoms. The authors present a case of thoracic spine dislocation vertically and transversely with intact posterior elements. A 35-year-old woman had stooping and back pain for five years. She developed motor weakness of both lower extremities three months ago. Plain X-ray and three-dimensional CT scans showed dislocation between T5 and T6 vertebrae, that were which was translated transversely and vertically with severe resorption of vertebral pedicles of T5 and T6. After skeletal traction, motor weakness was improved. And we performed two-staged anterior and posterior fusion to stabilize severe kyphoscoliosis. The patient was improved neurologically with free ambulation state at 24-month follow-up. Combined anterior and posterior fusion was an effective method for the treatment spontaneous vertebral column dislocation in the thoracic spine with progressive neurological symptoms.


Subject(s)
Adult , Female , Humans , Back Pain , Congenital Abnormalities , Joint Dislocations , Follow-Up Studies , Lower Extremity , Neurofibromatoses , Neurofibromatosis 1 , Spine , Tomography, X-Ray Computed , Traction , Walking
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