Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature [PDF]
Case Reports in Endocrinology, 2017 Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2–15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene.
Elizabeth S. Sandberg +3 more
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Deciphering short stature in children [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2020 Short stature is a common reason for referral to pediatric endocrinologists. Multiple factors, including genetic, prenatal, postnatal, and local environmental factors, can impair growth.
Nella Polidori +3 more
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Indian Journal of Endocrinology and Metabolism, 2012 Short stature can be a sign of disease, disability, and social stigma causing psychological stress. It is important to have an early diagnosis and treatment.
Vikas Chaudhary, Shahina Bano
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Leri-Weill dyschondrosteosis: An under-recognised cause of short stature [PDF]
South African Journal of Radiology, 2009 Short stature is a frequent presenting problem in the pediatric population. Various causes including endocrinopathies, skeletal dysplasias, dysmorphic syndromes and malabsorption have been implicated.
E G Lemire, S Wiebe
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Monogenic causes of familial short stature [PDF]
Frontiers in EndocrinologyGenetic factors play a crucial role in determining human height. Short stature commonly affects multiple family members and therefore, familial short stature (FSS) represents a significant proportion of growth disorders. Traditionally, FSS was considered
Lukas Plachy +6 more
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Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation [PDF]
, 2017 Aggrecan is a critical proteoglycan component of the extracellular matrix of the growth plates and articular cartilage and has a key role in the biophysical and biomechanical properties of cartilage.
Hideo Baba +15 more
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SHOX Gene Screening in Familial Short-stature Females [PDF]
Journal of Medical AcademicsIntroduction: As idiopathic short stature (ISS) has been linked to mutations in the SHOX gene, research into SHOX gene mutations in idiopathic familial short stature (FSS) is crucial. Early intervention planning necessitates the timely evaluation of FSS.
Karishma Sharma +4 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
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
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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
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