FGFR3 (fibroblast growth factor receptor 3) is a gene responsible for the most common form of osteodysplasia, achondroplasia, which results in extreme short stature. An allelic disorder, hypochondroplasia, however, presents with a much milder phenotype and is sometimes indistinguishable from idiopathic short stature. In this study, in order to test the possibility of the mildest end of hypochon...

AIM To study the etiological profile of short stature at a tertiary care hospital in north India. METHODS In this prospective study, 176 children with short stature were enrolled from January 2005 to December 2006. Appropriate screening and definitive tests were performed to establish the etiology of short stature. RESULTS Celiac disease (CD) emerged as the single most common (15.3%) cause ...

BACKGROUND Perinatal undernutrition may lead to important metabolic adaptations in adult life, short stature being the most visible. The present study aimed to evaluate the association between stature and total energy expenditure of low-income women. METHOD Women aged 19-45 years from low-income communities in Maceió-AL were recruited. A sample of 67 volunteers was selected and divided into e...

BACKGROUND Short stature affects approximately 2% of children, representing one of the more frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions of the short stature homeobox-containing gene (SHOX) are found quite frequently in subjects with short stature. Haploinsufficiency of the SHOX gene causes short statur...

Few paediatricians would deny that children with extreme short stature face a disability that may affect their physical, psychological, and social well being. Though considerable research has been performed on the nature of this disability, it has been focused on patients who are very short, secondary to conditions such as growth hormone deficiency or achondroplasia, and are attending specialis...

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. Index case was a 3-year-old male who presented for evaluation of short stature. His past medical history and birth history were unremarkable. Family history was notable for multiple ind...

BACKGROUND Asian-specific single nucleotide polymorphism (SNPs) (rs3782886) is reported to be associated with myocardial infarction; sarcopenia is reported to be associated with coronary subclinical atherosclerosis. On the other hand, short stature has been revealed as an independent risk factor for cardiovascular disease. However, no studies have reported on the association between sarcopenia ...

OBJECTIVE To describe the prevalence of short stature among children of Karapotó ethnic background. METHODS Cross-sectional, population-based study that included children between 6 and 59 months of age from the Plak-Ô native village and the Terra Nova settlement, São Sebastião, Alagoas, carried out between 2008 and 2009. Short stature was evaluated by the Height/Age index, using as cutoff z s...

background: thalassemia is the most common hereditary anemia and beta thalassemia major is its most severe form. endocrine abnormalities in thalassemia major are common disturbing complications that need prompt management. the purpose of this study was to determine the endocrine disorders and bone mineral density in patients with major -thalassemia in qazvin, iran. methods: in this cross- secti...