نتایج جستجو برای: genetic short stature

تعداد نتایج: 1022810  

Journal: :Archives of disease in childhood 1977
P R Evans

Four hypomelic children of abnormally short stature had slight intellectual defect, melanotic skin, and some facial features in common. 3 were followed to the age of 23-26 years, and they remained small and pigmented.

2015
Sung Yoon Cho Dong-Kyu Jin

Skeletal dysplasia (SD) is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to be seen by a pediatrician or orthopedic surgeon are those who present with short stature in childhood. Because each category has so many diseases, classification is important to understa...

Journal: :Best practice & research. Clinical endocrinology & metabolism 2011
Matthew A Sabin George A Werther Wieland Kiess

Childhood overweight and obesity is highly prevalent within society. In the majority of individuals, weight gain is the result of exposure to an 'obesogenic' environment, superimposed on a background of genetic susceptibility brought about by evolutionary adaptation. These individuals tend to be tall in childhood with a normal final adult height, as opposed to those who have an underlying monog...

2008
Jurgen H. Bramswig

Short or tall stature is primarily a normal variation of height. It is part of the continuum of the normal Gaussian distribution curve which defines the lower and upper limit of normal as the 3rd and 97th percentile. Within this context it is very important to differentiate normal variations in height and growth from pathological conditions. Normal variations in height are familial and idiopath...

Journal: :iranian journal of child neurology 0
hadi sorkhi associate professor of nephrology, non-communicable pediatric diseases research center, babol university of medical sciences, babol, iran yasser asghari vostacolaee general physician, babol university of medical sciences, babol, iran ali ghabeli juibari general physician, babol university of medical sciences, babol, iran

objective rubinstein-taybi syndrome is a rare genetic disorder with characteristic featuresincluding downward slanting palpebral fissures, broad thumbs and halluces,and mental retardation. systemic features may involve cardiac, auditory,ophthalmic, endocrine, nervous, renal and respiratory systems. this syndromeis sporadic in nature and has been linked to microdeletion at 16p 13.3 encodingcreb-...

  Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease, celiac, …) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has not been reported in Iran. We report a 9-year-old boy diagnosed as car...

A Kiani Sh Enshaieh

Bloom’s syndrome (BS) is a rare, autosomal recessive disease characterized by short stature, erythematous skin lesions with photosensitivity, hypo- and hyperpigmentation and recurrent bacterial infections due to immune deficiency. We report a 13-year old girl with erythema and telangiectasia in butterfly distribution on face, photosensitivity, multiple café au lait spots on trunk and extremitie...

2012
Hüseyin Anıl Korkmaz Filiz Hazan Ceyhun Dizdarer Ajlan Tükün

Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACP). Fibroblast growth factor receptor 3 gene (FGFR3) mutations in the germline are well-known causes of skeletal syndromes. FGFR3 is a negative regulator of bone growth and all mutat...

Journal: :Archives of pediatrics & adolescent medicine 2004
Patricia G Wheeler Karen Bresnahan Barbara A Shephard Joseph Lau Ethan M Balk

OBJECTIVE To review the available evidence on the association between primary short stature and intellectual and physical dysfunction among children. METHODS Systematic searches were performed through October 2001 of English-language studies of children with short stature and functional limitations. Included studies evaluated children with isolated short stature, constitutional growth delay, ...

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