Results 11 to 20 of about 3,279,632 (183)
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
doaj +2 more sources
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
doaj +2 more sources
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
Youn Hee, Jee +3 more
openaire +3 more sources
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
doaj +2 more sources
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
doaj +2 more sources
The effects of short-stature-for-age on cardiovascular and metabolic health in children: a systematic review. [PDF]
, 2019 Short stature has been associated with coronary heart disease in adults (Paajanen et al, 2010), but similar effects have not been established in children.
Nina Mendez (7244117) +6 more
core +7 more sources
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
doaj +1 more source
Western Journal of Medicine, 2002 A 12-year-old girl is brought in by her mother, who is concerned because her daughter is short even compared with other family members. She estimates that her daughter has grown less than 3 cm ( 1 in) in the past year andasks if she should receive growth hormone-a treatment that was recently mentioned in a newspaper article. The girl has no significant
Shayne P, Taback +2 more
openaire +3 more sources
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
core +1 more source
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
doaj +1 more source