Abstract
Background: Edward's syndrome or trisomy 18 syndrome is due to meiotic nondisjunction with multisystemic involvement. It is characterized by craniofacial, skeletal, cardiovascular, central nervous system and genitourinary malformations. Developmental delay is common in all children. Most cases are diagnosed before birth based on the mother's age and the detection of ultrasound abnormalities in the second and third trimesters. A careful examination is therefore very important to confirm the diagnosis and to help identify unexpected abnormalities. There is very little data on Edward's syndrome. Methods/Observation: to describe the clinical and cytogenetic characteristics of a patient with Edwards syndrome, as well as the interest of genetic counseling and constitutional karyotype in the management of neonates with neonatal hypotrophy and/or smooth intra uterine growth retardation (IUGR). Conclusion: Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations.
Keywords : Trisomy 18 syndrome, Edwards syndrome, diagnosis, genetic disorders.
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