Congenital and Genetic Disorders

Case Study 1

Mrs. V, a healthy 45-year-old woman, gives birth to a child. There are no outward complications associated with the birth but, when examined by the pediatrician, the child exhibits abnormal facies, a single palmar crease, hypotonic muscles, and loose pelvic joints. Following chromosomal analysis, a diagnosis of Down syndrome is made.

Discussion Questions

Discuss the cause of Down syndrome.

What risks factors exist in the family history?

Why are these thought to be risk factors?

Discuss further characteristics that the child may show as he gets older.