نتایج جستجو برای: short stature

تعداد نتایج: 440388  

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...

2010
Asaad Mohamed Abdullah Assiri

The aim of this study is to assess the prevalence of isolated short stature as a clinical presentation of celiac disease in Saudi Arab children and whether some of the routine laboratory tests performed to determine the cause of short stature could suggest the diagnosis of celiac disease. A total of 91 children with short stature were included in the study. Extensive endocrine and biochemical a...

Journal: :American journal of medical genetics. Part A 2004
Marjan Haghi Asheesh Dewan Kenneth Lee Jones Richard Reitz Christopher Jones Paul Grossfeld

Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Short stature has been reported in this syndrome, however very few of these patients have undergone endocrine evaluation. Serum insulin-like growth factor-1 (IGF-1) levels are an indirect indicator of growth hormone activity and are a useful initial screening tool in ...

Journal: :European journal of endocrinology 2004
Linda D Voss David E Sandberg

Short stature, per se, is clearly not a disease, but is commonly perceived to be associated with social and psychological disadvantage. The assumption, widely held by pediatricians that short children are likely to be significantly affected by their stature, has been founded largely on older, poorly designed clinic-based studies and laboratory investigations of beliefs about the association bet...

Journal: :Journal of medical genetics 2000
J Szudek P Birch J M Friedman

OBJECTIVE To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients. DESIGN Cross sectional database survey. SETTING The National Neurofibromatosis Foundation International Database (NFDB) includes clinical information on NF1 patients from 14 participating centres in North America. SUBJECTS A total ...

اشرفی, محمودرضا , محمدی, محمود ,

S-J syndrome is a rare autosomal recessive disorder of short stature, blepharophimosis, puckerd mouth, myotonia, muscular weakness, pectus carinatum and stiff joints. Case report: first case: n.1. A boy aged 7 years. His main abnormalities included puckered lip, blephharophimosis, muscular hypertrophy and weakness, pectus carinatum, short stature, shoulder joint limitation and myopia. Myotonic ...

2012
Donatella Capalbo Maria Giuseppa Scala Daniela Melis Giorgia Minopoli Nicola Improda Loredana Palamaro Claudio Pignata Mariacarolina Salerno

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We compare in two patients with molecularly confirmed ...

Journal: :Journal of Clinical and Analytical Medicine 2015

Journal: :Hormone Research in Paediatrics 2015

Journal: :Advances in Clinical and Experimental Medicine 2018

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