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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Main Authors: Sung Yoon Cho, Dong-Kyu Jin
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2015-12-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
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.
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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
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