نتایج جستجو برای: genetic short stature

تعداد نتایج: 1022810  

Journal: :international journal of pediatrics 0
shruti saraswat department of paediatrics, hi tech medical college, utkal university, bhubaneswar, odisha, india. satish mohanty department of paediatrics, hi tech medical college, utkal university, bhubaneswar, odisha, india.

background robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. case report we describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further sup...

2015
Luigi Tarani Francesca Mancini Natascia Liberati Giovanni Parlapiano Leonardo Pimpolari Michela Martini Chiara Mancini Fiorenza Colloridi

At present, factors that have been recognized as being able to influence growth are: nutritional, physical, chemical, psychological and genetic. The causes of short stature are numerous, with about 90% of cases classified as Idiopathic Short Stature and divided into 2 types familial short stature and constitutional short stature. Part of the population with growth disorders are SGA newborns (10...

2017
Min Jae Kang

Traditionally, the growth hormone - insulin-like growth factor I (GH - IGF-I) axis is the most important signaling pathway in linear growth, and defects in this axis present as growth hormone deficiencies or IGF-I deficiencies. However, subtle changes in serum levels of GH or IGF-I, caused by gene mutations involved in the GH - IGF-I axis, can present as idiopathic short stature (ISS). This pap...

2013
Mi Kyung Park Kui Young Park Kapsok Li Seong Jun Seo Chang Kwun Hong

BACKGROUND Short stature is sometimes seen in children with atopic dermatitis (AD); however, the topic has never been studied systematically. OBJECTIVE The aim of this study was to show whether AD itself affects stature in children and to evaluate the influence of other relevant factors such as genetic background, diet restrictions, and sleep disturbance on the stature of children with AD. ...

اسلامی, ابوالقاسم, رودپیما, شهلا,

Noonan syndrome is a genetic condition inherited by an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic feature of Turner's syndrome, but a normal karyotype. Noonan syndrome affects approximately 1 in 1500 live births. Congenital heart disease occurs in 35-50% of patients diagnosed with noonan syndrome. The most common cardia...

Journal: :European journal of endocrinology 2016
Jan M Wit Wilma Oostdijk Monique Losekoot Hermine A van Duyvenvoorde Claudia A L Ruivenkamp Sarina G Kant

The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in ho...

2015
Qian Wang De-yun Liu Li-qi Yang Yue Liu Xian-jun Chen

BACKGROUND There was no large-scale population survey on the prevalence of short stature in Anhui province yet. To further acquainting the epidemiological character of teenage children short stature in Anhui province, and to provide basis for exploring reasonable intervention measure about children's height, we took this survey on short stature in primary and middle school students of Anhui pro...

Journal: :JAMA 2014

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