Guidelines for genetic skeletal dysplasias for pediatricians
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...
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Format: | Article |
Language: | English |
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Korean Society of Pediatric Endocrinology
2015-12-01
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Series: | Annals of Pediatric Endocrinology & Metabolism |
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Online Access: | http://e-apem.org/upload/pdf/apem-20-187.pdf |
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author | Sung Yoon Cho Dong-Kyu Jin |
author_facet | Sung Yoon Cho Dong-Kyu Jin |
author_sort | Sung Yoon Cho |
collection | DOAJ |
description | 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. |
first_indexed | 2024-12-12T14:02:43Z |
format | Article |
id | doaj.art-0b4a7484b3db4b568a00b0c58b954850 |
institution | Directory Open Access Journal |
issn | 2287-1012 2287-1292 |
language | English |
last_indexed | 2024-12-12T14:02:43Z |
publishDate | 2015-12-01 |
publisher | Korean Society of Pediatric Endocrinology |
record_format | Article |
series | Annals of Pediatric Endocrinology & Metabolism |
spelling | doaj.art-0b4a7484b3db4b568a00b0c58b9548502022-12-22T00:22:18ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922015-12-0120418719110.6065/apem.2015.20.4.187588Guidelines for genetic skeletal dysplasias for pediatriciansSung Yoon Cho0Dong-Kyu Jin1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.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.http://e-apem.org/upload/pdf/apem-20-187.pdfShort statureSkeletal dysplasiaExome sequencing |
spellingShingle | Sung Yoon Cho Dong-Kyu Jin Guidelines for genetic skeletal dysplasias for pediatricians Annals of Pediatric Endocrinology & Metabolism Short stature Skeletal dysplasia Exome sequencing |
title | Guidelines for genetic skeletal dysplasias for pediatricians |
title_full | Guidelines for genetic skeletal dysplasias for pediatricians |
title_fullStr | Guidelines for genetic skeletal dysplasias for pediatricians |
title_full_unstemmed | Guidelines for genetic skeletal dysplasias for pediatricians |
title_short | Guidelines for genetic skeletal dysplasias for pediatricians |
title_sort | guidelines for genetic skeletal dysplasias for pediatricians |
topic | Short stature Skeletal dysplasia Exome sequencing |
url | http://e-apem.org/upload/pdf/apem-20-187.pdf |
work_keys_str_mv | AT sungyooncho guidelinesforgeneticskeletaldysplasiasforpediatricians AT dongkyujin guidelinesforgeneticskeletaldysplasiasforpediatricians |