Background: Down syndrome is the most common autosomal disorder in humans. And the most common genetic chromosomal disorder causing mental disability in children.
It also cause other medical abnormalities including heart and gastrointestinal disorder.
These children sharing common features and characteristic faces.
Each individual with this syndrome will not have all the features, but they will have a unique combination.
Objective: In our study we try to spot light on the craniofacial features of Down syndrome in our country: their percentage; to compare it with another study in other countries.
We also focus on the craniofacial features accuracy in diagnosis. Karyotyping not always available.
Also we study the risk factors where we found that the mother age is not the only risk factor, but also the father age play a big role in Down syndrome and this risk factor needs to be studied with large number of patients.
Also we study the problems associated with Down syndrome and its percentages, and to compare it with other study done in our neighbor's countries, where we found many differences
Setting and Design: Our study is a descriptive, case series retrospective study was conducted in Benghazi Libya's children hospital.
This study includes 73 patients who were referred to our Genetic clinic from October 2016 to march 2017.
The genetic clinic is the only clinic in Benghazi and the whole East of Libya.
This clinic follows children with DS and children with dysmorphic features in Benghazi and the Libyan ‘east.
Materials and Methods: We studied 73 children randomly from different age group, and different socioeconomic classes, who attend the genetic clinic, which is an outpatient clinic and the only clinic which follows children with DS and dysmorphic feature in a pediatric hospital in Benghazi- Libya.
We took the history from the parent (the father and the Mother).
The investigation done in our hospital.
Father and mother age at pregnancy.
Spontaneous or induced pregnancy.
Drug history of the mothers and fathers.
History of abortion and normal children.
Any other baby with Down syndrome or other dysmorphic features.
Echocardiography done for all children.
Ultrasound abdomen and brain did for all children.
Thyroid function test done for all children and repeated annually for all children.
The diagnosis done mainly by clinical features. Some cases (40 cases) are proved by karyotype chromosomal analysis.