الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
Down syndrome (DS), or Trisomy 21, is one of the most common genetic diseases. About one in 1000 babies born each year is affected by DS. These patients suffer from many health problems, such as intellectual disability, congenital heart disease, duodenal stenosis, Alzheimer’s disease, leukemia, immune system deficiencies, muscle hypotonia and motor disorders.
The study was conducted on 500 patients with clinical features of DS randomly selected from those attending Genetics Clinic-Alexandria University Children’s Hospital. The aim of the study was to Find out the frequency and types of renal and urological abnormalities in Down syndrome patients attending Alexandria University Children’s Hospital and estimate the importance of routine abdominal ultrasonographic screening of renal and urological anomalies in cases of Down syndrome.
All patients have been confirmed by karyotyping to be DS patient. Individual data were recorded in case sheet for each patient including; personal data, present history, past history, family history, prenatal history, natal history, vaccination history, postnatal history, developmental history. Clinical evaluation including examination of the features of DS, associated anomalies and associated complications.
1- The age of studied cases was ranged between 1 month and 9 years.
2- The mean chronological age of these patients 2.88 ± 1.80 and median 1.50.
3- The patients included 223 (44.6% males and 277 (55.4%) females.
4- The maternal age for DS ranged from 24 to 55 years at conception with mean ± SD 38.94 ± 4.65 and median 40.0.
5- The paternal age ranged from 30 to 60 years with mean ± SD 45.89 ± 5.27 and median 46 years.
6- Consanguinity was present in 100 (20%) of the cases. (49.2%) of them live in Urban area and (50.8%) in rural area.
7- Patients were assessed for weight, height/or length, head circumference and body mass index (BMI) according to age and sex percentile growth curves for Down Syndrome. (119), the majority of the study cases (92.8%) had normal weight for age. Short stature was evident in 6.6% of cases.
8- Calculation body mass index (BMI) revealed that 74.2% of cases had normal body mass index (in between the 5th percentile and 85th percentile) obesity was detected in 4.6% 0f the study cases (>95th percentile). 83.2% of our cases had normal head circumference and 16.8% of them had small head (below 3rd percentile).