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Idiopathic short stature [PDF]

open access: yesSrpski Arhiv za Celokupno Lekarstvo, 2013
Growth is a complex process and the basic characteristic of child- hood growth monitoring provides insight into the physiological and pathological events in the body.
Vlaški Jovan   +5 more
doaj   +5 more sources

Etiologies and characteristics of children with chief complaint of short stature [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2015
PurposeShort stature is a very common reason for visits to pediatric endocrine clinics. It could be the first sign of an underlying disease. The purpose of this study is to investigate the etiologies and general characteristics of subjects who visited an
Kyung Chul Song   +6 more
doaj   +4 more sources

Case analysis and literature review of 3 children with short stature with ACAN gene mutation [PDF]

open access: yesZhenduanxue lilun yu shijian, 2023
Objective: To analyze the clinical features and genetic changes of 3 children in short stature with ACAN gene mutation. Methods: The clinical data, laboratory examinations, and genetic testing results of 3 children with ACAN gene mutations diagnosed with
LI Yanxiao, LU Wenli, WANG Xinqiong, CHEN Ye, XIAO Yuan, DONG Zhiya, MA Xiaoyu
doaj   +1 more source

Prevalence and Aetiological Profile of Short Stature in School Children between 6-11 Years of Age- A Community Based Prospective Observational Study [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2023
Introduction: Growth is a complex process and influenced by genetic back ground, different functions of endocrine system, nutrition, effect of any chronic disease and the level of individual physical activity.
Jasmine Kandagal   +3 more
doaj   +1 more source

A new era of genetic diagnosis for short stature children: A review [PDF]

open access: yesPrecision and Future Medicine, 2022
Children with short stature are often presented to pediatric endocrinologists. Short stature is defined as the height that is more than two standard deviations below the corresponding mean height for a specific age and sex in a reference population ...
Yoo-Mi Kim
doaj   +1 more source

Idiopathic Short Stature: What to Expect from Genomic Investigations

open access: yesEndocrines, 2023
Short stature is a common concern for physicians caring for children. In traditional investigations, about 70% of children are healthy, without producing clinical and laboratory findings that justify their growth disorder, being classified as having ...
Nathalia Liberatoscioli Menezes Andrade   +4 more
doaj   +1 more source

Genetic syndromes and skeletal dysplasia associated with short stature – A case series

open access: yesApollo Medicine, 2023
Introduction: Stature has a very high heritability index of about 80%. There are multiple genes which regulate the chondrogenesis at the growth plate. It is but natural that mutations or defects involving these genes lead to normal variant short stature ...
Divya Agarwal   +3 more
doaj   +1 more source

A study of short stature among adolescents in the rural tertiary center- A prospective observational study [PDF]

open access: yesAl Ameen Journal of Medical Sciences, 2021
Background: Long-term morbidities during the adolescence period cause short stature which is permanent, once epiphysis fuse. Objectives: To evaluate etiology in short stature adolescents and its relation with HSDS (Height Standard Deviation Score) and BA
Dixa Shah   +5 more
doaj  

Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies [PDF]

open access: yesPeerJ, 2020
Background SHOX mutations have previously been described as causes of Léri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopathic short stature. The loss of X chromosome—Turner syndrome or mosaic 45,X/46,XX or 46,XY—also leads to
Pavlina Capkova   +4 more
doaj   +2 more sources

Relationship between short stature at 3 years old and height, weight, and body mass index changes for 6 years after birth: a retrospective, nationwide, population-based study of children born 2011–2014 in Korea [PDF]

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2023
Purpose Height at 3 years of age, when catch-up growth based on birth history is completed, is considered a major prognostic factor for predicting short stature, underweight, and growth faltering.
Seo Jung Kim, Ju Hyun Jin, In Hyuk Chung
doaj   +1 more source

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