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
core +8 more sources
Italian Journal of Pediatrics, 2020 Background Under nutrition and overweight typically occur during nutritional transition periods in developing countries including Egypt. Short stature and anemia are public health concern due to its strong link with malnutrition which is a preventable ...
Ali M. El-Shafie +15 more
semanticscholar +1 more source
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
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
core +1 more source
Hormone Research in Paediatrics, 2019 The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children. Forty-six international experts participated at the invitation of GRS including clinicians, basic scientists ...
P. Collett-Solberg +34 more
semanticscholar +1 more source
Journal of Clinical Endocrinology and Metabolism, 2020 CONTEXT The C-type natriuretic peptide receptor encoded by the NPR2 gene is a paracrine regulator of the growth plate, heterozygous NPR2 variants cause short stature with possible presence of different signs of bone dysplasia.
L. Plachy +12 more
semanticscholar +1 more source
Whole exome sequencing to identify genetic causes of short stature [PDF]
, 2014 BACKGROUND/AIMS: Short stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified.
Dauber, Andrew +6 more
core +1 more source
Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies [PDF]
PeerJ, 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
SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report
Diagnostics, 2022 Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local regulation of the growth plate or genes involved in the GH-IGF1 axis ...
Maria-Christina Ungureanu +6 more
doaj +1 more source
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
doaj +1 more source