지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제20권 제4호
- 발행연도
- 2015.1
- 수록면
- 187 - 191 (5page)
이용수
초록· 키워드
오류제보하기
Skeletal dysplasia (SD) is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to be seen by a pediatrician or orthopedic surgeon are those who present with short stature in childhood. Because each category has so many diseases, classification is important to understand SD better.
In order to diagnose a SD accurately, clinical and radiographic findings should be evaluated in detail. In addition, genetic diagnosis of SD is important because there are so various SDs with complex phenotypes. To reach an exact diagnosis of SDs, cooperative approach by a clinician, a radiologist and a geneticist is important.
This review aims to provide an outline of the diagnostic approach for children with disproportional short stature.
목차
등록된 정보가 없습니다.
참고문헌 (22)
참고문헌 신청
Bae JS / 2015 / Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing / Genet Med
Bober MB / 2012 / Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy / Am J Med Genet A 158A : 2336 ~ 2341
Bonafe L / 2015 / Nosology and classification of genetic skeletal disorders / Am J Med Genet A
DL R / 1997 / Principles and practice of medical genetics / Churchill Livingstone
Digilio MC / 1997 / Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes / Pediatr Cardio
Bober MB / 2012 / Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy / Am J Med Genet A 158A : 2336 ~ 2341
Bonafe L / 2015 / Nosology and classification of genetic skeletal disorders / Am J Med Genet A
DL R / 1997 / Principles and practice of medical genetics / Churchill Livingstone
Digilio MC / 1997 / Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes / Pediatr Cardio
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Deciphering short stature in children
Annals of Pediatirc Endocrinology & Metabolism
2020 .01
-
중학생, 고등학생 및 대학생의 스마트폰 의존도 영향요인 비교: 제7차 한국 아동청소년 패널조사 자료를 바탕으로
Child Health Nursing Research
2019 .01
-
Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature
Annals of Pediatirc Endocrinology & Metabolism
2020 .01
-
Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature
Journal of genetic medicine
2018 .01
-
Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood
Annals of Pediatirc Endocrinology & Metabolism
2022 .06
-
소아의 키 성장에 대한 성장호르몬의 치료효과
약학회지
2016 .01
-
Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches
Annals of Pediatirc Endocrinology & Metabolism
2021 .12
-
Influences of Socioeconomic Status on Short Stature in Childhood
고신대학교 의과대학 학술지
2020 .01
-
Factors affecting height velocity in normal prepubertal children
Annals of Pediatirc Endocrinology & Metabolism
2018 .01
-
Etiologies and characteristics of children with chief complaint of short stature
Annals of Pediatirc Endocrinology & Metabolism
2015 .01
-
Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience
Annals of Pediatirc Endocrinology & Metabolism
2024 .02
-
Molecular Diagnosis for Skeletal Dysplasia in Korea
Journal of mucopolysaccharidosis and rare disease
2016 .01
-
Effects of Social Distancing on Diabetes Management in Older Adults during COVID-19 Pandemic
Diabetes and Metabolism Journal
2021 .09
-
Predicting First-Year Growth in Response to Growth Hormone Treatment in Prepubertal Korean Children with Idiopathic Growth Hormone Deficiency: Analysis of Data from the LG Growth Study Database
Journal of Korean Medical Science
2020 .01
-
Hemodynamic, Autonomic, and Vascular Function Changes after Sleep Deprivation for 24, 28, and 32 Hours in Healthy Men
Yonsei Medical Journal
2018 .01
-
Stature estimation of Korean skeletal remains in the archaeological context
대한체질인류학회 학술대회 연제 초록
2019 .05
-
Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience"
Annals of Pediatirc Endocrinology & Metabolism
2024 .02
-
저신장 소아의 심리적 특성과 주의력 : 다기관, 환자-대조군 연구
생물치료정신의학
2015 .10
-
Effect of body mass index on peak growth hormone level after growth hormone stimulation test in children with short stature
Annals of Pediatirc Endocrinology & Metabolism
2021 .09
이 논문의 저자 정보
최근 본 자료
댓글(0)
0