نتایج جستجو برای: genetic short stature
تعداد نتایج: 1022810 فیلتر نتایج به سال:
Background and Aim: One of the common problems of children all over the world is short stature. Due to the high costs of treatment, the present research studied the cost-effectiveness of growth hormone (Somatropin) for the treatment of children with short stature in Kerman Province. Materials and Methods: This research is an economic evaluation. The population of the study consisted of all per...
Based on the observation of reduced stature in relatives of patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations in natriuretic peptide receptor-B gene (NPR2), it has been suggested that heterozygous mutations in this gene could be responsible for the growth impairment observed in some cases of idiopathic short stature (ISS). We e...
Background: Thalassemia is the most common hereditary anemia and beta thalassemia major is its most severe form. Endocrine abnormalities in thalassemia major are common disturbing complications that need prompt management. The purpose of this study was to determine the endocrine disorders and bone mineral density in patients with major -thalassemia in Qazvin, Iran. Methods: In this cross- sect...
The "360° GH in Europe" meeting, which examined various aspects of GH diseases, was held in Lisbon, Portugal, in June 2016. The Merck KGaA (Germany) funded meeting comprised three sessions entitled "Short Stature Diagnosis and Referral," "Optimizing Patient Management," and "Managing Transition." Each session had three speaker presentations, followed by a discussion period, and is reported as a...
Skeletal dysplasia is an uncommon cause of short stature in children. An 11-year-old girl was evaluated for severe short stature in a tertiary care hospital. Clinical examination revealed severe disproportionate short stature and classical triad of multiple supernumerary teeth, and complete absence of clavicles and open sagittal sutures and fontanelles. Skeletal survey confirmed these findings,...
Growth hormone (GH) therapy has been appropriate for severely GH-deficient children and adolescents since the 1960s. Use for other conditions for which short stature was a component could not be seriously considered because of the small supply of human pituitary-derived hormone. That state changed remarkably in the mid-1980s because of Creutzfeldt-Jakob disease associated with human pituitary t...
Children and adolescents whose heights and growth velocities deviate from the normal percentiles on standard growth charts present a special challenge to physicians. Height that is less than the 3rd percentile or greater than the 97th percentile is deemed short or tall stature, respectively. A growth velocity outside the 25th to 75th percentile range may be considered abnormal. Serial height me...
KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11 gene (ANKRD11) has recently been identified as a causal factor of this syndrome. We describe a 6-yr-old Korean boy with features of KBG syndrome. The patient had a short...
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