• Clinical and Experimental Reproductive Medicine
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• v.19 no.1
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• pp.95-101
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• 1992

During the years 1983 to 1991, cytogenetic analysis was performed on 19 women with Turner syndrome in order to find out the incidence of symptoms and signs according to the classification of chromosome abnormalities. 1. All of them showed short stature and the mean height in 7 adults was $140.71{\pm}5.26cm$. 2. Among the 19 patients with Turner syndrome, 7 (36.8%) had 45, XO karyotype, 7 (36.8%) had 46, Xi (Xq), and remained 5 (26.3%) had mosaicism. 3. Five patients with mosaicism had 45, X/46, XX (2), 45, X/46, Xi (Xq) (2) and 45, X/47, XXX (1), respectively. 4. Patients with 45, XO and 46, Xi (Xq) had amenorrhea, whereas only 33% (1/3) of patients with mosaicism had amenorrhea. Total incidence of amenorrhea was 84.6% (11/13). 5. Abnormal external genitalia was detected in 63.6% of patients. The incidence of abnormality in patients with mosaicism was lower than that of other groups. 6. OMPC and deafness were detected in 3 of 19 patients. 7. Two cases of cardiovascular abnormalities were found in patients with 45, XO. This study suggests that gnenetic counselling according to the classification of chromosomal abnormalities could be needed in patients with Turner syndrome.

• Journal of the Korean Society of Clothing and Textiles
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• v.24 no.4
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• pp.521-529
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• 2000

This paper proposed the sizing system for women's upper clothes in order to improve clothing fitness and raise the productivity. The sizing system was classified according to 5 body types and 5 age groups. The size intervals of the basic dimensions were established at regular intervals centering around their means. The size interval of stature was 8cm centering around 158cm and that of bust girth 4cm centering around 84cm and that of hip girth 4cm centering around 92cm. Frequency distribution on the size of upper clothes showed that the most frequent size were 96-96-150 in the longest-fattest type, 88-96-158 in the long-fatter type, 84-92-158 in the medium length-fat type, 84-92-166 in the Short-balanced type, and 76-88-158 and 80-88-158 in the medium length-balanced type. The number of the sizes of upper clothes, which had frequencies more than 5%, was 32 and each size was presented with waist girth, back waist length and sleeve length. The size system classified by age group had 22 cases in the early twenties, 15 cases in the late twenties, 21 cases in the early thirties, 19 cases in the late thirties, and 15 cases in the forties.

• Fashion & Textile Research Journal
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• v.7 no.4
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• pp.419-425
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• 2005

The purpose of this study is to analyze the physical characteristic by directly measuring the wheelchair using disabled women. The subjects were 103 disabled women of wheelchair used women and between 20 - 55 years of age. The result of this study is as follow. There was a remarkable difference in the physical characteristic of wheelchair using disabled women due to their cause of disability. The cause of disability was classified into the 4 groups; poliomyelitis, spiral cord injury, muscular dystrophy, cerebral palsy. Poliomyelitis disability generally had a large horizontal area due to their strong upper body. People with spiral cord injury disability was shown to have the largest height, cervical height, waist back length, crotch length, knee length, The group of muscular dystrophy disabled people have the shortest length of body and also lean. The cebral palsy group of disabled people has an average length and height size body. A comparison of anthropometric measurements of wheelchair using disabled women with National Anthropometric Survey Korea(1997) was significant difference. People with poliomyelitis disability was shown to have a larger waist back length, neck point to breast point compared to normal women, but stature, crotch length was shorter compared to normal women. People with spiral cord injury disability had a similar in the vertical area. The group of muscular dystrophy and cebral palsy disabled people was short and smaller in general compared to a normal woman.

• 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.

• Neonatal Medicine
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• v.18 no.2
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• pp.374-378
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• 2011

Noonan syndrome is an autosomal dominant disorder characterized by typical facial features, congenital heart disease, and short stature. Diagnosis is difficult only with clinical symptoms and it is recently confirmed with gene study. The genotype-phenotype correlations have been reported. We report a newborn with KRAS gene mutation. This is the second report of case with KRAS gene mutation in Korea. So we hope this case will be a help to diagnosis and treatment of Noonan syndrome from birth.

• Radiation Oncology Journal
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• v.29 no.2
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• pp.121-126
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• 2011

The author reports a bile duct cancer patient whose stent shifted significantly from right to left over the course of radiotherapy. The 80-year-old female patient had a short stature with thoracic kyphosis and mutiple spinal compression fractures. She was also emaciated and very lean. By comparing the weekly scanned computed tomography images, the author found her stent to have shifted by more than 4 cm from right to left over the course of external beam radiotherapy. The results of this case study suggest that for a very lean and emaciated kyphotic bile duct cancer patient, the possibility of large interfractional movement of the bile duct or stent during radiotherapy should be considered.

• Childhood Kidney Diseases
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• v.13 no.2
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• pp.256-260
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• 2009

The Russell-Silver syndrome (RSS) is a disease characterized by intrauterine growth retardation with preserved head circumference, facial dysmorphism and short stature. Reported renal and urinary manifestations of RSS include horseshoe kidney, renal tubular acidosis, hydronephrosis, ureteropelvic obstruction and vesicoureteral reflux. Here we report a case of end-stage renal disease associated with RSS, which, to the best of our knowledge, has not been reported yet.

• Clinical and Experimental Pediatrics
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• v.54 no.2
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• pp.55-63
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• 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

• Clinical and Experimental Pediatrics
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• v.59 no.1
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• pp.1-7
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• 2016

Infants born small for gestational age (SGA) are at increased risk of perinatal morbidity, persistent short stature, and metabolic alterations in later life. Recent studies have focused on the association between birth weight (BW) and later body composition. Some reports suggest that fetal nutrition, as reflected by BW, may have an inverse programing effect on abdominal adiposity later in life. This inverse association between BW and abdominal adiposity in adults may contribute to insulin resistance. Rapid weight gain during infancy in SGA children seemed to be associated with increased fat mass rather than lean mass. Early catch-up growth after SGA birth rather than SGA itself has been noted as a cardiovascular risk factor in later life. Children who are born SGA also have a predisposition to accumulation of fat mass, particularly intra-abdominal fat. It is not yet clear whether this predisposition is due to low BW itself, rapid postnatal catch-up growth, or a combination of both. In this report, we review the published literature on central fat accumulation and metabolic consequences of being SGA, as well as the currently popular research area of SGA, including growth aspects.

• Clinical and Experimental Pediatrics
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• v.60 no.2
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• pp.31-37
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• 2017

Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, tumor, osteoporosis, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and health-care providers. Psychosocial issues frequently affect adherence to glucocorticoid treatment. Therefore, the safe transition of adolescents to adult care requires regular follow-up of patients by a multidisciplinary team including pediatric and adult endocrinologists. The major goals for management of adults with 21-hydroxylase deficiency are to minimize the long-term complications of glucocorticoid therapy, reduce hyperandrogenism, prevent adrenal or testicular adrenal rest tumors, maintain fertility, and improve quality of life. Optimized medical or surgical treatment strategies should be developed through coordinated care, both during transition periods and throughout patients' lifetimes. This review will summarize current knowledge on the management of adults with CAH, and suggested appropriate approaches to the transition from pediatric to adult care.