A new era of genetic diagnosis for short stature children: A review [PDF]
Precision 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
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Idiopathic Short Stature: What to Expect from Genomic Investigations
Endocrines, 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
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Etiologies and characteristics of children with chief complaint of short stature [PDF]
Annals 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
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Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]
, 2015 We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire +29 more
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Genetic syndromes and skeletal dysplasia associated with short stature – A case series
Apollo 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
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Genetics of Short Stature [PDF]
Endocrinology and Metabolism Clinics of North America, 2017 Short stature is a common and heterogeneous condition that is often genetic in etiology. For most children with genetic short stature, the specific molecular causes remain unknown; but with advances in exome/genome sequencing and bioinformatics approaches, new genetic causes of growth disorders have been identified, contributing to the understanding of
Jeffrey Baron +3 more
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Maternal short stature does not predict their children's fatness indicators in a nutritional dual-burden sample of urban Mexican Maya. [PDF]
, 2014 The co-existence of very short stature due to poor chronic environment in early life and obesity is becoming a public health concern in rapidly transitioning populations with high levels of poverty.
Bogin, B +5 more
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A study of short stature among adolescents in the rural tertiary center- A prospective observational study [PDF]
Al 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
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]
Annals 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
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Evaluation of the American-English Quality of Life in Short Stature Youth (QoLISSY) questionnaire in the United States. [PDF]
, 2015 BACKGROUND: The European Quality of Life in Short Stature Youth (QoLISSY) is a novel condition-specific instrument developed to assess health related quality of life (HrQoL) in children/adolescents with short stature from patient and parent perspectives.
Bullinger, Monika +9 more
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