نتایج جستجو برای: genetic short stature

تعداد نتایج: 1022810  

Journal: :Indian Pediatrics 2022

Appropriate corrections have been done in the web version at

2014
Zohreh Karamizadeh Anis Amirhakimi Gholamhossein Amirhakimi

OBJECTIVE Gonadotropin-Releasing Hormone agonists (GnRHa) are used to improve the final adult height in short stature children. There are limited studies which address the potential side effect of these agents: excessive weight gain. We have followed girls with rapidly progressive puberty receiving GnRHa and results were focused on the effect of treatment on final height, weight and body mass i...

2017
Julia Hoppmann Julia Gesing Caroline Silve Chrystel Leroy Astrid Bertsche Franz Wolfgang Hirsch Wieland Kiess Roland Pfäffle Volker Schuster

Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in protein kina...

2017
Melikşah Keskin Nursel Muratoğlu Şahin Erdal Kurnaz Elvan Bayramoğlu Şenay Savaş Erdeve Zehra Aycan Semra Çetinkaya

The Miller-McKusick-Malvaux (3M) syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features, and skeletal abnormalities with normal intelligence. A 16-month-old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of 1740 grams on the 39th week of gestation, with a birth length of 42 cm and no prior hereditary c...

Journal: :The British journal of psychiatry : the journal of mental science 2014
Ruoling Chen Zhi Hu Li Wei Kenneth Wilson

BACKGROUND People from lower socioeconomic groups have a higher risk of mortality. The impact of low socioeconomic status on survival among older adults with dementia and depression remains unclear. AIMS To investigate the association between socioeconomic status and mortality in people with dementia and late-life depression in China. METHOD Using Geriatric Mental Status - Automated Geriatr...

2007
Shirley Clark

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Journal: :Hormone research 2005
David E Sandberg Melissa Colsman

The unlimited availability of biosynthetic human growth hormone (rhGH) has contributed to the disassociation of the treatment of short stature from its causes. The rationale for treatment has traditionally rested upon the assumption that short stature, in the extreme, may constitute a physical disability, and otherwise represents a significant psychosocial burden for the individual. This review...

Journal: :Pediatric annals 2014
Melissa D Garganta Andrew A Bremer

Concerns about a child's growth are one of the most common topics parents voice during general pediatric office visits and are a leading cause for referral to a pediatric endocrinologist. There are a variety of conditions that lead to short stature in children; however, in the absence of true pathology, idiopathic short stature and constitutional delay are the most frequent causes. This article...

Journal: :International Journal of Contemporary Pediatrics 2022

Rubinstein Taybi syndrome (RTS) is a rare genetic condition caused by mutation or deletion in the CREBBP and/or EP300 gene located on chromosome 16. It characterized short stature, moderate to severe learning difficulties, distinctive facial features and broad thumbs toes. occurs estimated 1 1,25000 3,00000 births. Diagnosis mainly depends upon presence of features, abnormal facies, abnormaliti...

2014
Janusz Ordover

For many years, standard-setting organizations (SSOs) have required members to commit to license standard-essential patents (SEPs) on Fair, Reasonable and Non-discriminatory (FRAND) terms. How FRAND terms can and should be interpreted has been the subject of extensive debate (as well as litigation in many jurisdictions). While we acknowledge other objectives behind these commitments, we focus h...

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