• Journal of Genetic Medicine
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• 제16권1호
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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.

• 한국의류산업학회지
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• 제20권4호
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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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• 제59권sup1호
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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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• 제50권3호
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• pp.315-318
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• 2007

본 증례 보고는 작은 키와 단지증을 가진 전형적인 Joubert Syndrome 환아의 10년간 장기 추적 관찰한 결과이다. 환아는 영아기 초기부터 저호흡이 동반된 빈호흡, 율동성 안구 운동, 근긴장저하를 보였다. 생후 5개월에 Joubert Syndrome의 임상 증상과 전형적 MRI 소견을 보여 진단되었다. 비정상 호흡과 안구 운동은 4세경에 사라졌다. 두위는 정상 범위를 유지하였으나 키와 몸무게는 뚜렷히 정체되었다. 단순 방사선 소견 상 뇌압 상승 소견이 있는 커진 두개골과 안면골의 저형성, 손과 발의 비정상적 연골 형성을 보였다. 본 증례는 말초 이골증이 있는 Joubert Syndrome의 첫번째 보고이다.

• 구강회복응용과학지
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• 제30권2호
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• pp.170-175
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• 2014

성장장애는 두개안면부의 골격성장과 영구치의 조기상실에 영향을 미친다. 본 증례는 성장장애 환자에서 치아를 조기 상실한 부위에 무피판 술식으로 임플란트를 식립 시 컴퓨터 단층촬영(CT)을 통한 인접치아의 확인과 임플란트 가이드의 필요성을 살펴보았다. 특발성 저신장과 3급 정신지체의 20세의 여환에서 구치의 회복을 위해 임플란트 고정성 보철을 계획하였다. CT 영상에서 인접치가 심하게 협측으로 위치되어 있었고, 이를 반영하여 가이드를 제작후 임플란트를 식립하였다. 이상 위치된 인접치를 기준으로 임플란트를 식립할 경우 협측 골의 천공이 발생할 수 있다. 그러므로 성장장애 환자에서 치아 조기 상실부에 임플란트를 식립 시 CT를 통한 치아의 위치 확인과 가이드의 제작이 요구된다.

• 대한소아치과학회지
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• 제29권1호
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• pp.51-56
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• 2002

러셀-실버 증후군(Russell-Silver syndrome)은 출생시 저신장, 편측성 비대칭과 성기관 발육의 다양성 및 그 외 cafe-aulait 반점, 만지증 등의 특징과 태아기부터 발현되는 성장지연을 보이는 질환이다. 이 신드롬과 관련된 안면 특징은 작고 삼각형의 얼굴과 짧은 안면고경, 구각부가 아래로 쳐진 입모양(shark's mouth) 작은 하악골과 흔히 좌우 비대칭이 있는 것이다. 현재까지 보고되고 있는 러셀-실버 증후군의 주요한 구강내 소견은 높은 구개궁(high-arched palate), 맹출 지연, 왜소치와 총생이다. 현재까지 세계적으로 약 150 증례가 보고되고 있으나 치의학적으로는 극히 드물다. 본 증례는 출생전 성장지연, 저신장, 저체중 등 임상소견을 통해 러셀-실버 증후군으로 진단받았고 성장호르몬 치료를 받았고, 현재 치료 중이다. 이 두 증례를 통해 러셀-실버 증후군의 구강내 특징을 보고하고, 관련 문헌을 고찰해 보고자 한다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제20권4호
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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.

• 대한인간공학회지
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• 제5권2호
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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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• 제9권1호
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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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• 제15권2호
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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.