• 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.

• Fashion & Textile Research Journal
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• v.20 no.4
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• pp.464-473
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• 2018

The objective of this study is to develop a sizing system of fitness clothing that can properly accommodate various body sizes of Korean senior women. The sizing system of upper and lower fitness clothing was developed in the present study by selection of key variables, identification of size category candidates, and determination of an optimal sizing system. First, key anthropometric dimensions (stature and bust circumference for upper clothing and stature; waist circumference for lower clothing) were identified by factor analysis on the direct body measurements (n = 272) and 3D whole-body scan data (n = 271) of Korean senior women in Size Korea. Second, sizing system candidates based on the key dimensions of upper and lower clothing were explored using a grid method and an optimization method. Lastly, among the sizing system candidates, optimal sizing systems of upper and lower clothing were selected in terms of accommodation rate. Five size categories (short/small, short/medium, tall/small, tall/medium, and tall/large) were selected as the optimal sizing systems of upper and lower clothing with 89% and 78% of accommodation rate, respectively, for the Korean senior women. The anthropometric characteristics of the representative humans of the optimal size categories would be of use in the design of fitness compressive wear for the better fit and effectiveness of exercise and health of Korean senior women.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.14-18
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• 2016

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year-and 6-month-old boy experienced afebrile generalized seizure at the age of 5 years and 3 months. He had recurrent febrile seizures since 12 months of age and showed severe global developmental delay, remarkable hypotonia, short stature, and dysmorphic features such as microcephaly; small, low-set ears; dark, straight eyebrows; deep-set eyes; flat nasal bridge; midface hypoplasia; and a small, pointed chin. Previous diagnostic work-up, including conventional chromosomal analysis, revealed no definite causes. However, array-comparative genomic hybridization analysis revealed 1p36 deletion syndrome with a 9.15-Mb copy loss of the 1p36.33-1p36.22 region, and fluorescence in situ hybridization analysis (FISH) confirmed this diagnosis. This case highlights the need to consider detailed chromosomal study for patients with delayed development and epilepsy. Furthermore, 1p36 deletion syndrome should be considered for patients presenting seizure and moderate-to-severe developmental delay, particularly if the patient exhibits dysmorphic features, short stature, and hypotonia.

• Clinical and Experimental Pediatrics
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• v.50 no.3
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• pp.315-318
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• 2007

This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements, and hypotonia during early infancy. She was diagnosed with Joubert syndrome based on clinical symptoms and typical MRI findings at 5 months of age. Abnormal ventilation and eye movements disappeared at around 4 years of age. Head circumference kept within normal range for her age, but her height and weight growth were markedly retarded. Simple X-ray showed an enlarged skull with increased digital markings, hypoplasia of facial bones, and abnormal enchondral bone formations in hands and feet. This article is the first report of Joubert syndrome with peripheral dysostosis.

• Journal of Dental Rehabilitation and Applied Science
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• v.30 no.2
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• pp.170-175
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• 2014

The growth disorder influences craniofacial development and early loss of permanent teeth. This case reports the importance of computerized tomography (CT) and surgical guide to identify horizontal bone loss, adjacent teeth and to guide drills when placing implants in a short stature patient. The patient has idiopathic short stature and the 3rd grade of intellectual disability. To recover posterior mandibular teeth, implant treatment was planned. CT images showed that the adjacent teeth were located markedly to the buccal side. A CT-based surgical guide was fabricated and implants was placed using flapless surgery. Bone dehiscence and fenestration may happen when the surgical guide was fabricated just based on adjacent clinical crowns. Thus, it is essential to analysis bone and teeth and to make surgical guide through CT, especially in atrophied bone on grow disorder patients. Furthermore, systematic researches are recommended to elucidate the relationship between growth disorder and tooth malposition.

• Journal of the korean academy of Pediatric Dentistry
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• v.29 no.1
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• pp.51-56
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• 2002

Russell-Silver syndrome is a type of intrauterine growth retardation, characterized by short stature noted at birth, hemiatrophy or asymmetry, variation in sexual development and other abnormalities, including cafe-aulait pigmentation and clinodactyly. Facial features commonly associated with this syndrome are a small triangular face, decreased facial height, down-turned corners of the mouth(shark's mouth), a small mandible, and occasionally asymmetry. The major intra-oral features of the syndrome that have been reported are a high-arched palate, delayed tooth eruption, microdontia, hypodontia, and crowding. These cases were diagnosed at birth as Russell-Silver syndrome by clinical features such as prenatal growth retardation, short stature, low body weight, et al., and have been treated with growth hormone. The purpose of this paper is to report the dental findings of two patients and review the pertinent literature through the two cases.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.4
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• pp.222-226
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• 2017

Purpose: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children. Methods: Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015. Hospital charts were reviewed. Demographic data, clinical characteristics, and follow-up were recorded. Results: Thirty-five children were diagnosed with celiac disease during the study period. Mean age${\pm}$standard deviation was $6.7{\pm}3.8$ years (range, 2.0-14 years). There were 17 (48.6%) female patients. The average duration between onset of symptoms and diagnosis was $16.3{\pm}18.7$ months. Fifteen (42.9%) patients presented with classic malabsorption symptoms, whereas 7 (20.0%) patients presented with short stature. Positive tissue transglutaminase antibodies (tTg)-immunoglobulin A (IgA) was seen in 34 (97.1%) patients. The one patient with negative tTg-IgA had IgA deficiency. Although tTG-IgA values were not available for objective documentation of compliance, clinical data (resolution of presenting abnormalities and growth improvement) assured acceptable compliance in 22 (62.9%) patients. Conclusion: CD in children may present with diverse picture. Although of the small number, the non-classical presentations are not uncommon in our rural community. Gluten-free diet is the main strategy for treatment and associated with usually correction of laboratory abnormalities and improvement of growth.

• Journal of the Ergonomics Society of Korea
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• v.5 no.2
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• pp.37-44
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• 1986

This study investigates display station physical adjustments preferred by a sample of visual display terminal operators. Participants in the study were selected to assure representation of extremely short and extremely tall persons, as well as persons of midrange physical stature. Individual operators were led through a step-by-step sequence to determine their preferred initial settings of seat height, keyboard height and slope angle, and CRT height and tilt angle. Each operator then performed a brief text input tase, after which final preferred adjustments were measured. Intermeasure correlation strongly suggest that "flat" (low slope angle) keyboards are in appropriate for short operators who select low seat heights. In addition, the keyboard angle adjustments preferred by most operators substantially exceed a current German ergonomic display station requirement.

• Journal of Genetic Medicine
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• v.9 no.1
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• pp.31-34
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• 2012

Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings are characterized by narrow intervertebral disc spaces and moderate epiphyseal dysplasia of long bones. Here we report a case of SEDT with a novel frameshift mutation in TRAPPC2, the disease-causing gene of SEDT. This is the first Korean report with SEDT confirmed by genetic testing.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.97-101
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• 2018

Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.