Guidelines for genetic skeletal dysplasias for pediatricians

Annals of Pediatric Endocrinology & Metabolism
Sung Yoon Cho, Dong-Kyu Jin

Abstract

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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Citations

May 13, 2017·Annales d'endocrinologie·Agnès LinglartCatherine Adamsbaum
Mar 31, 2017·Surgical and Radiologic Anatomy : SRA·Marcin WiśniewskiMichał Szpinda
Nov 2, 2018·Surgical and Radiologic Anatomy : SRA·Marcin WiśniewskiKatarzyna Pawlak-Osińska
May 3, 2019·Surgical and Radiologic Anatomy : SRA·Marcin WiśniewskiKatarzyna Pawlak-Osińska
Dec 24, 2018·Surgical and Radiologic Anatomy : SRA·Mariusz BaumgartKatarzyna Pawlak-Osińska
Jun 12, 2020·Italian Journal of Pediatrics·Andrea TrombettaGianluca Tornese
Apr 21, 2018·Surgical and Radiologic Anatomy : SRA·Mariusz BaumgartKatarzyna Pawlak-Osińska
Apr 3, 2021·NeoReviews·Seth J LangstonAlison Chu

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Methods Mentioned

BETA
exome sequencing

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