• Imaging Science in Dentistry
• /
• 제41권4호
• /
• pp.177-181
• /
• 2011

Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. We report a case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger tips, and nail abnormalities. Radiographs showed multiple impacted permanent and supernumerary teeth, hypoplastic paranasal sinuses with acro-osteolysis of terminal phalanges, and open fontanelles, and sutures along with wormian bones in the lambdoidal region.

• 한국의류학회지
• /
• 제25권4호
• /
• pp.743-753
• /
• 2001

This paper proposed the sizing system for womens lower clothes. The sizing system was classified according to 4 body types and 5 age groups. The size intervals of waist girth, hip girth, stature, and slacks length were 3cm, 4cm, 8cm, and 5cm respectively. Frequency distribution analyzed with waist girth, hip girth, and stature showed that the most frequent sizes were 86-100-158 in the fattest-medium length H type, 77-92-158 in the fat-short M type, 68-92-158 in the balanced-long A type, and 65-88-158 in the balanced-medium length A type. The number of the sizes for lower clothes, which had frequencies more than 4∼5%, was 33 and each size was presented with slacks length, skirt length, thigh girth, and knee girth. Also frequency distribution analyzed with waist girth, hip girth, and slacks length showed that the most frequent sizes were 86-100-90 in the fattest-medium length H type, 74-96-90 in the fat-short M type, 68-92-90 in the balanced-long A type, and 65-88-90 in the balanced-medium length A type. The sizing system classified by age group had 21 cases in the early twenties, 21 cases in the late twenties, 18 cases in the early thirties, 16 cases in the late thirties, and 8 cases in the forties. This result will contribute to clothing fitness and efficient production.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• 제23권1호
• /
• pp.31-35
• /
• 2012

Noonan syndrome is characterized by short stature, typical facial dysmorphology, and congenital heart defects. The main facial features of Noonan syndrome are hypertelorism with down-slanting palpebral fissures, ptosis, and low-set posteriorly-rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency, and lymphatic dysplasias. The patient is a 10-year-old boy. He had experienced repeated febrile convulsions. He had typical facial features, a short stature, chest deformity, cryptorchidism, vesicoureteral reflux, and mental retardation. His language and motor development were delayed. When he went to school, it was difficult for him to pay attention, follow directions, and organize tasks. He also displayed behavior such as squirming, leaving his seat in class, and running around inappropriately. Clinical observation is important for the diagnosis, so we report a patient who was diagnosed with Noonan syndrome, mental retardation, and attention-deficit hyperactivity disorder.

• Clinical and Experimental Pediatrics
• /
• 제59권sup1호
• /
• pp.121-124
• /
• 2016

Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.

• Journal of Genetic Medicine
• /
• 제17권1호
• /
• pp.47-50
• /
• 2020

In Turner syndrome (TS), 45,X/47,XXX mosaicism is a rare genotype. Due to its low frequency, the clinical features and prognosis are not clearly known. A 10-year-old girl was diagnosed with 45,X/47,XXX mosaicism TS and presented with short stature. She did not show any other TS phenotypic features, except for short stature, and developed spontaneous puberty and menarche, although she had unilateral ovarian agenesis. She achieved a significant growth improvement following growth hormone treatment. Since 45,X/47,XXX mosaic TS shows different gonadal function from that of classic TS, it is necessary to conduct surveillance for premature ovarian insufficiency.

• Annals of Pediatric Endocrinology and Metabolism
• /
• 제23권4호
• /
• pp.176-181
• /
• 2018

Noonan syndrome (NS) is an autosomal dominant disorder that involves multiple organ systems, with short stature as the most common presentation (>70%). Possible mechanisms of short stature in NS include growth hormone (GH) deficiency, neurosecretory dysfunction, and GH resistance. Accordingly, GH therapy has been carried out for NS patients over the last three decades, and multiple studies have reported acceleration of growth velocity (GV) and increase of height standard deviation score (SDS) in both prepubertal and pubertal NS patients upon GH therapy. One year of GH therapy resulted in almost doubling of GV compared with baseline; afterwards, the increase in GV gradually decreased in the following years, showing that the effect of GH therapy wanes over time. After four years of GH therapy, ~70% of NS patients reached normal height considering their age and sex. Early initiation, long duration of GH therapy, and higher height SDS at the onset of puberty were associated with improved final height, whereas gender, dosage of GH, and the clinical severity did not show significant association with final height. Studies have reported no significant adverse events of GH therapy regarding progression of hypertrophic cardiomyopathy, alteration of metabolism, and tumor development. Therefore, GH therapy is effective for improving height and GV of NS patients; nevertheless, concerns on possible malignancy remains, which necessitates continuous monitoring of NS patients receiving GH therapy.

• 한국의류학회지
• /
• 제48권3호
• /
• pp.528-542
• /
• 2024

The aim of this study was to analyze and typify the body shape of tall women aged 20-69 using 3D measurement data from the 2020 8^th Human Dimensions Survey data with greater than 165.0 cm in height defined as large stature. Each body type's characteristics were examined to derive points of differentiation compared to women of average body type. The analysis showed that as height increases, body height, length, and generally body circumference, thickness, and width also increase. However, taller women were found to have thinner waists, indicating a wider, flatter waist area. Waist circumference was also smaller, albeit not at a statistically significant level. Body shapes of adult women over 165.0 cm tall were classified into three types. The following body types were analyzed: thick ankles and drooping shoulders, thin and short torso, tall and long, long torso and thick ankles, large body circumference, thickness and width, normal torso length, and short stature and thin ankles. To develop garments for adult women over 165.0 cm tall, a new drafting method was required set the waist, knee height, and shoulder width.

• 대한가정학회지
• /
• 제20권4호
• /
• pp.53-67
• /
• 1982

Physical measurements of 181 Korean elderly women, aged 60 through 79, living in the Seoul area, were taken in 1981 in order to analyze their body types and to study clothing construction according to their body types. The study was composed of 117 items in all; 35 items in measurements, 1 items in Rohrer index, 68 items in physical index to stature and bust girth, and 14 items in proportion, Coefficients of correlation among body dimensions were used. The results from this analysis are as follows: 1) The most significant changes in body dimensions in advanced age were the decrease of bust height and the increase of both abdomen girth and waist girth. 2) Distinct physical changes did not appear until advanced senescence(70~79 years of age). 3) In the three somatotype groups(thin, average, and plump) categorized by their Rohrer index, the dimensions that remained unchanged in senescence were back waist length and front waist length ; the dimensions that varied most significantly in senescence were the waist measurements. 4) As a result of the analysis of coefficients of correlation among the body dimensions of the 3 figure groups categorized by the Rohrer index, the fundamental dimensions for establishing the size of ready-to-wear garments of elderly women were the stature, bust girth and center back length in upper garments. 5) The result of the analysis of physical index and proportion of the 3 figure groups showed that the more plump a figure might be, the ratio of depth to width measurements increased; the back waist height was higher and trunk enlarged. 6) The 9 figure categorized by their Rohrer index and stature showed that the percentage of women in the category of“normal figure”decreased more in advanced senescence than during early senescence. 7) An analysis of variation of the 9 figure groups, the stature and other items for a short and thin figure were the smallest, and for a tall and plump figure, the largest.

• Clinical and Experimental Pediatrics
• /
• 제52권3호
• /
• pp.356-363
• /
• 2009

목 적 : 특발성 저신장증 환자에서 IGF-I 유전자 다형성의 역할에 대한 연구는 아직 보고되지 않았다. 저자들은 한국인 특발성 저신장증 환자를 대상으로 IGF-I 프로모터 CA repeat 유전자 다형성에 대한 분석을 실시하였다. 방 법 : 신장 계측에 의해 2007년에 제작된 한국 소아 발육 표준 신장표에 의거하여 나이와 성별에 따른 신장백분위수가 3백분위수 미만인 131명을 대상으로 하였다. 성장호르몬 치료의 분석은 최소한 6개월 이상 성장호르몬 치료를 받은 37명을 대상으로 실시하였다. 유전자형의 분석은 유전자 염기서열분석을 통하여 실시하였다. CA repeat 횟수에 따른 대립유전자의 분포를 조사하였고, 이를 바탕으로 유전자형을 분석하였다. CA repeat의 heterozygous의 분석은 Gene Mapper software를 이용하였다. 혈청 IGF-I 농도는 RIA방법으로 측정하였다. 결 과 : 국인 특발성 저신장증 환자에서의 CA repeat의 분포는 15부터 22까지였으며, 19 repeat가 40.6%의 빈도로 가장 높았다. 유전자형에 따른 분포는 131명 중 17명(13.0%)이 19 CA repeat homozygous 였으며, 74명(56.5%)은 heterozygous, 40명(30.5%)은 19 CA repeat noncarrier 였다. 유전자형에 따른 키, 체중, BMI는 세군 모두에서 유의한 차이가 없었다. 유전자형에 따른 혈청 IGF-I 농도는 19 CA repeat noncarrier군에서 $435.67{\pm}160.29$ ng/mL로, 19 CA homozygous 군에서의 $435.60{\pm}131.51$ ng/mL, 19 CA heterozygous 군에서의 $473.76{\pm}185.01$ ng/mL과 유의한 차이가 없었다. 나이와 혈청 IGF-I 농도와의 상관관계를 분석한 결과 세군 모두에서 유의한 양의 상관관계를 보였다(P<0.01). 유전자형에 따른 첫 1년 동안의 성장호르몬 치료 효과를 분석한 결과 성장호르몬 치료 후 12개월로 환산한 성장속도는 19 CA homozygote군에서 $7.6{\pm}3.4$ Cm, 19 CA heterozygote군에서 $7.9{\pm}2.6$ cm 그리고 19 CA noncarrier군에서 $7.7{\pm}2.8$ cm로 세군 사이에 유의한 차이가 없었다(P>0.05). 성장호르몬 치료 전후의 신장표준편차점수 차이도 19 CA homozygote군에서 $0.6{\pm}0.2$, 19 CA heterozygote군에서 $0.5{\pm}0.4$ 그리고 19 CA noncarrier군에서 $0.5{\pm}0.4$로 세군 사이에 유의한 차이가 없었다(P>0.05). 결 론 : 특발성 저신장증 환자에서의 IGF-I 프로모터 CA repeat 유전자 다형성의 분포는 15부터 22까지였으며, 19 repeat가 40.6%의 빈도로 가장 높았다. 키, 체중, BMI 그리고 혈중 IGF-I농도는 유전자형에 따라 유의한 차이가 없었다. 유전자형에 관계없이 나이와 혈중 IGF-I 농도 사이에는 모든 군에서 유의한 양의 상관관계를 나타내었다. 유전자형에 따른 첫 1년간의 성장호르몬 치료 효과도 유전자형에 따라 유의한 차이가 없었다. 그러므로 특발성 저신장증 환자에서는 IGF-I 유전자 다형성은 기능적 역할을 하지 못한다고 생각한다.

• Journal of Preventive Medicine and Public Health
• /
• 제54권5호
• /
• pp.309-316
• /
• 2021

Objectives: This study examined stunting at birth and its associations with physical factors of parents and children in Indonesia. Methods: This study analyzed secondary data from the national cross-sectional Indonesian Basic Health Survey 2018, conducted across 34 provinces and 514 districts/cities. Birth length data were available for 756 newborns. Univariable, bivariable, and multivariable logistic regression analyses were performed to determine associations between the physical factors of parents and children and stunting at birth. Results: In total, 10.2% of children aged 0 months were stunted at birth (10.7% of males and 9.5% of females). Stunting at birth was associated with the mother's age at first pregnancy, parity, parents' heights, parents' ages, and gestational age. Children from mothers with short statures (height <145.0 cm) and fathers with short statures (height <161.9 cm) had an almost 6 times higher likelihood of being stunted at birth (adjusted odds ratio, 5.93; 95% confidence interval, 5.53 to 6.36). A higher maternal age at first pregnancy had a protective effect against stunting. However, other variables (firstborn child, preterm birth, and both parents' ages being <20 or >35 years) corresponded to a 2-fold higher likelihood of stunting at birth compared to the reference. Conclusions: These findings provide evidence that interventions to reduce stunting aimed at pregnant females should also consider the parents' stature, age, and parity, particularly if it is the first pregnancy and if the parents are short in stature or young. Robust programs to support pregnant females and monitor children's heights from birth will help prevent intergenerational stunting.