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العنوان
Genetic Study of Skeletal Dysplsia and Short Stature /
المؤلف
Nofal, Rehab Fouad Mohammed Hassan.
الموضوع
pediatrics. clinical presentation- skeletal dysplasia.
تاريخ النشر
2010.
عدد الصفحات
188 p. :
الفهرس
Only 14 pages are availabe for public view

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from 198

Abstract

Different tissues and different regions of the body mature at different rates, and the growth and development of a child consists of ahighly complex series of changes. It is like the weaving of a cloth whose pattern never repeats itself, each underlying thread coming off its reel at its own rhythm and interacting with the others continuously, in a manner which is always highly regulated and controlled This study was carried on (15) patients of idiopathic short stature ISS) & (5) patients of achonDROPlasia. All of them were belonging to the same socio – economic class & were collected from the pediatric endocrinology & genetics unit, Minoufiya university hospital The diagnosis of these children was based on the clinical examination, anthropometric measurements, hormonal assay & genetic study Idiopathic short stature patients ( group I), include (8) males & (7 female and their ages were raging between (3 : 18) years old. While
achonDROPlasia patients (group II) include (3) males & (2) females. The
patient no. (2) is the father of patient no. (1) & his age was 45 years old The other 4 patients ages were ranging between (3) months & (9) years old On the other hand, (15) children were representing the control group, (8) males & (7) females & their ages were ranging between (6 16) years old All children of both the study & control groups were subjected to a full history taking, thorough clinical examination, family pedigree, (13)anthropometric parameters, hormonal assay including T4, TSH & GH level, X-ray on left wrist for bone aging. Genetic studying which includekaryotyping & moleculer study of SHOX gene.