• Journal of Genetic Medicine
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• 제18권2호
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• pp.94-100
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• 2021

Early onset scoliosis (EOS) describes the onset of scoliosis before the age of 10 years and is associated with significant health risks. Compared to adolescent idiopathic scoliosis, studies on the etiology of EOS in children are more common. EOS includes inhomogeneous groups of patients, and the etiology of EOS may be congenital, neuromuscular, syndromic, or idiopathic. The identification of the molecular etiology underlying patients with EOS has been increasing. This could provide valuable information for optimizing the management and care of these children. In this review, EOS was reviewed from a medical genomic perspective.

• Journal of Korean Neurosurgical Society
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• 제62권5호
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• pp.577-585
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• 2019

Objective : Comparing the effects of magnetically controlled growing rod (MCGR) and traditional growing rod (TGR) techniques on the sagittal plane in the treatment of early-onset scoliosis (EOS). Methods : Twelve patients were operated using dual MCGR technique in one center, while 15 patients were operated using dual TGR technique for EOS in another center. Patients' demographic characteristics, complications and radiological measurements such as cobb angle, thoracic kyphosis, lumbar lordosis, T1-S1 range (mm), proximal junctional angle, distal junctional angle, sagittal balance, coronal balance, pelvic incidence, sacral slope and pelvic tilt were assessed and compared in preoperative, postoperative and last follow-up period. Results : Age and sex distributions were similar in both groups. The mean number of lengthening in the MCGR group was 12 (8-15) and 4.8 (3-7) in the TGR group. Two techniques were shown to be effective in controlling the curvature and in the increase of T1-S1 distance. In TGR group, four patients had rod fractures, six patients had screw pull-out and four patients had an infection, whereas three patients had screw pull-out and one patient had infection complications in the MCGR group. Conclusion : There was no significant difference between the two groups in terms of cobb angle, coronal and sagittal balance and sagittal pelvic parameters. MCGR can cause hypokyphosis and proximal junctional kyphosis in a minimum 2-year follow-up period. The implant-related complications were less in the MCGR group. However, larger case groups and longer follow-up periods are required for the better understanding of the superiority of one method on other in terms of complications.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.41-45
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• 2016

Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component of the connective tissues. A 10-year-old girl visited our hospital with the chief complaint of precocious puberty. According to her medical history, she had a pulmonary wedge resection for a pneumothorax at 9 years of age. There was no family history of MFS. Mid parental height was 161.5 cm. The patient's height was 162 cm (>97th percentile), and her weight was 40 kg (75th-90th percentile). At the time of initial presentation, her bone age was approximately 11 years. From the ophthalmologic examination, there were no abnormal findings except myopia. There was no wrist sign. At the age of 14 years, she revisited the hospital with the chief complaint of scoliosis. Her height and weight were 170 cm and 50 kg, respectively, and she had arachnodactyly and wrist sign. We performed an echocardiograph and a test for the FBN1 gene mutation with direct sequencing of 65 coding exons, suspecting MFS. There were no cardiac abnormalities including mitral valve prolapse. A cytosine residue deletion in exon 7 (c.660delC) was detected. This is a novel mutation causing a frameshift in protein synthesis and predicted to create a premature stop codon. We report the case of a patient with MFS with a novel FBN1 gene missense mutation and a history of pneumothorax at a young age without cardiac abnormalities during her teenage years.