Short stature in genetic syndromes: Selected issues
نویسندگان
چکیده
منابع مشابه
Syndromes with short stature
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...
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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...
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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...
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Normal growth is a complex dynamic process dependent on the coordination of multiple factors including genetics, nutrition and hormones that are all working in balance. This chapter will review selected features of commonly utilized genetic techniques such as chromosomal analysis, microarray analysis, targeted gene screening and whole exome sequencing that are being used to identify genes influ...
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Accurate serial measurements of height and weight and an accurate record of growth are essential cornponents of the clinical evaluation of all children. Maintenance of a growth chart allows comparison of an individual child with a large population in terms of both percentile ranking and the determination of ‘ ‘ height age’ ‘ : the chronologic age at which the patient’s height falls on the 50th ...
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ژورنال
عنوان ژورنال: Advances in Clinical and Experimental Medicine
سال: 2018
ISSN: 1899-5276
DOI: 10.17219/acem/67051