Results 21 to 30 of about 3,414,711 (270)

Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature [PDF]

Osteoarthritis and Cartilage, 2008
Familial osteochondritis dissecans (OCD) is a rare disorder characterised by disturbed chondro-skeletal development, disproportionate growth and deformation of the skeleton.We identified a five-generation family with 15 living affected members from Northern Sweden.
Stattin, E.-L., Tegner, Y., Domellöf, M., Dahl, N.   +3 more
openaire   +4 more sources

Research progress of short stature and advanced bone age, early-onset osteoarthritis and osteochondritis dissecans (SSOAOD) caused by acan gene mutation [PDF]

Frontiers in Endocrinology
IntroductionHeterozygous mutations in the ACAN gene are a key genetic cause of non-syndromic familial short stature. The associated disease spectrum includes short stature, advanced bone age, early-onset osteoarthritis, and osteochondritis dissecans ...
Yunchong Chen, Su Wu, Wei Gu
doaj   +2 more sources

Familial, constitutional, and combined idiopathic short stature: longitudinal growth patterns and pubertal effects [PDF]

Frontiers in Pediatrics
BackgroundPathological causes account for approximately 15%–20% of short-stature cases, whereas about 80% of short-statured children have no identifiable underlying etiology and are classified as idiopathic short stature (ISS).
Erkut Gürlek, Sirmen Kızılcan Çetin, Elif Özsu, Zehra Aycan, Merih Berberoğlu, Zeynep Şıklar   +5 more
doaj   +2 more sources

Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review [PDF]

Frontiers in Endocrinology
BackgroundBrachydactyly type E is a rare skeletal disorder characterized by variable shortening of the metacarpals and/or metatarsals. Heterozygous pathogenic variants in PTHLH, which encodes parathyroid hormone-related protein, are an established cause ...
Hui Huang, Binyang Zhu, Zaisheng Wang, Zhuqiang Wu, Jinqiu Rao, Yu Yang, Xiangyu Xiong   +6 more
doaj   +2 more sources

Case Report: Proportionate short stature in a three-generation family harboring FGFR3 N540S: phenotypic expansion beyond hypochondroplasia and implications for genetic screening in idiopathic short stature [PDF]

Frontiers in Endocrinology
ObjectiveTo report the identification of a FGFR3 gene variant in a family with idiopathic short stature, characterized by proportionate stature and the absence of dysmorphic features, and to highlight the importance of genetic investigation in ISS as ...
Beibei Zhang, Xinmeng Wang, Jingjie Luo, Chunxiu Gong   +3 more
doaj   +2 more sources

Delayed diagnosis of hereditary fructose intolerance presenting as chronic lean steatosis in an adolescent. [PDF]

JPGN Rep
Abstract Hereditary fructose intolerance (HFI) typically presents in infancy with acute metabolic crisis upon the introduction of fructose. We report a case of a 13‐year‐old female with chronic abdominal pain, short stature, and persistent mild transaminitis.
Hurlock A, Lah M, Hyaduck HS, Molleston JP, Jarasvaraparn C.   +4 more
europepmc   +2 more sources

The causes of short stature among children in Gorgan-Iran

مجله دانشگاه علوم پزشکی گرگان, 2008
Background and Objective: Short stature among children is often due to physiological causes but it can be a sign of important and curable diseases. Thus early detection of problem, before epiphyseal closure, is critical.
Sakineh Mohammadian (MD), Homeira Khoddam (MSc), Mahmood Reza Nematollahi (MD)   +2 more
doaj   +1 more source

Prevalence and Aetiological Profile of Short Stature in School Children between 6-11 Years of Age- A Community Based Prospective Observational Study [PDF]

Journal of Clinical and Diagnostic Research, 2023
Introduction: Growth is a complex process and influenced by genetic back ground, different functions of endocrine system, nutrition, effect of any chronic disease and the level of individual physical activity.
Jasmine Kandagal, Suman Rath, Madhuri Maganti, Caroline Elizabeth George   +3 more
doaj   +1 more source

TUBULAR BONE ALTERATIONS IN FAMILIAL SHORT STATURE [PDF]

Pediatric Research, 1987
An anthropometric study was performed on 40 Caucasian children with familial short stature (FSS) and conpared with 40 age-, race-, and sex-matched children with normal height (C-NH), and 250 adolescent girls with normal height (AG-NH). Anthropometric measurements were also obtained on 30 short parents of the FSS (P-SS) and compared with 26 normal ...
C, Cervantes, F, Lifshitz
openaire   +2 more sources

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2 [PDF]

, 2010
Context: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder as a result of mutation in genes encoding either the ACTH receptor [melanocortin 2 receptor (MC2R)] or its accessory protein [melanocortin 2 receptor accessory ...
Metherell, LA, Chung, TTLL, Clark, AJ, Chung, TT, Chan, LF, Clark, AJL   +5 more
core   +1 more source