الفهرس 
IntroductionOnly 14 pages are availabe for public view
 |  | from | 189 |  |  |
| | | from | 189 | | |
Abstract
Congenital malformations are structural defects of prenatal origin that result from defective embryogenesis. They are currently an important cause of infant mortality and account for an increasing proportion of infant death in both developed as well as developing countries. The exact etiology of most congenital anomalies is unidentified but genetic and environmental causes are proposed to be involved. Anomalies which affect an infant’s life expectancy, health status, physical or social functioning may be described as “major” anomalies. In contrast, minor anomalies are those with little or no impact on health or short term or long term function.
Our study aimed to study the congenital anomalies as regard their prevalence, clinical pattern and risk factors as well as to develop an approach to make a diagnosis of a dysmorphic child.
The study was carried out on 100 infants and children who have congenital anomalies attended to our pediatric genetic clinic or admitted at pediatric department from October 2016 to October 2017. Their ages ranged between 1day-12years.They were 54 males and 46 females.
The cases were classified as follow:
group І included 51 cases having single anomalies.
group II included 49 cases having multiple anomalies, which were further subdivided into:
• group ІIa: included 7 cases with chromosomal abnormalities
• group IIb: included 22 cases with syndromes, associations, sequences or developmental field defect
group IIc: included 20 cases with unknown diagnosis
All studied children were subjected to the following after taking informed consent:
1. Detailed history regarding gender, gestational age, residence, maternal and paternal age, chronic illness of the mother, route of delivery and three generation family pedigree.
2.Thorough clinical examination including general appearance, body shape and size, head shape, facial features and careful examination of extremities regarding symmetry, shortening of limbs and abnormalities of the fingers and toes. Photographs were taken to document the dysmorphic features.
3. Anthropometric measurements including craniofacial anthropometry with comparing these measures with age-appropriate standards was also done.
4. Investigations including routine ones and TORCH screening along with the diagnostic imaging studies and karyotyping as well as assessment of the Intelligent Quotient as indicated.
Cases with multiple anomalies were diagnosed by comparison with known cases and diagnosis search on databases e.g. OMIM, Face2gene library and Genetic Home Reference. Results were analyzed by simple statistical techniques recording number and percentage of cases.
The study revealed that:
• Male infants with congenital anomalies were more than females with male to female ratio of 1.17:1.
• Congenital anomalies were more common among term infants.
Consanguinity still was high among cases with congenital anomalies in spite of increasing awareness of the community. Maternal age is an important parameter in the birth of a child with congenital malformation.
• Maternal drug intake and diabetes in pregnancy was among factors contributing to increased incidence of congenital anomalies in our study.
• Frequency of congenital anomalies is more in children delivered by C.S than in those delivered vaginally.
• Incidence of congenital anomalies was high in children whose mothers were not receiving folic acid during pregnancy.
• Cases with major anomalies comprise 51% while those with minor anomalies comprise 18% while 31% of the cases have bot major and minor ones.
• The anomalies were classified according to the affected system and musculoskeletal anomalies were the most common followed by craniofacial, nervous system, cardiovascular, genitourinary, renal and then gastrointestinal anomalies.
• As regard the categorization of anomalies, single anomalies represented (51%) whereas multiple anomalies were (49%) of which (14.2%) have chromosomal abnormalities, (32.6%) have clinically diagnosed genetic syndromes, (12.2%) were categorized as associations , sequences & developmental field defects and (40.8%) cannot be diagnosed and can be related to undiagnosed genetic cause, environmental , multifactorial or unknown causes.
• Genetic counseling was done for providing families with information on the nature, inheritance and implications of the disorders, including recurrence risks, to help them make informed medical and personal decisions.