• Imaging Science in Dentistry
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• v.41 no.4
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• pp.177-181
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• 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.

• Journal of the Korean Society of Clothing and Textiles
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• v.25 no.4
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• pp.743-753
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• 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
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• v.23 no.1
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• pp.31-35
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• 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
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• v.59 no.sup1
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• pp.121-124
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• 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
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• v.17 no.1
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• pp.47-50
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• 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
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• v.23 no.4
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• pp.176-181
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• 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.

• Journal of the Korean Home Economics Association
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• v.20 no.4
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• pp.53-67
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• 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
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• v.52 no.3
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• pp.356-363
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• 2009

Purpose : A polymorphism in the IGF-I gene promoter region is known to be associated with serum IGF-I levels, birth weight, and body length, suggesting that IGF-I gene polymorphism might influence postnatal growth. The present study aimed to investigate the role of this polymorphic cytosine-adenine (CA) repeat of the IGF-I gene in children with idiopathic short stature. Methods : The study involved 131 children (72 boys and 59 girls) diagnosed with idiopathic short stature, aged 715 years. Genomic DNA was extracted from anticoagulated peripheral whole blood. The primers were designed to cover the promoter region containing the polymorphic CA repeat. Data were analyzed using GeneMapper software. The correlations between age and serum IGF-I levels were analyzed using Spearmans correlation coefficient. Results : The CA repeat sequences ranged from 15 to 22, with 19 CA repeats the most common with an allele frequency of 40.6%. Homozygous for 19 CA repeat was 13.0%, heterozygous for 19 CA repeat was 56.5%, and 19 CA non-carrier was 30.5%. The three different genotype groups showed no significant differences in height, body weight and body mass index, and serum IGF-I levels. The serum IGF-I level and age according to the IGF-I genotypes were significantly correlated in the entire group, 19 CA repeat carrier group, and the non-carrier group. The three groups also showed no significant differences in the first year responsiveness to GH treatment. Conclusion : There were no significant different correlations between 19 CA repeat polymorphism and serum IGF-I levels according to genotype. Our results suggest that the IGF-I 19 CA repeat gene polymorphism is not functional in children with idiopathic short stature.

• Journal of Preventive Medicine and Public Health
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• v.54 no.5
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• pp.309-316
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• 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.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.