NUR 416 Lecture Notes - Lecture 9: Palpebral Fissure, Trisomy, Down Syndrome
31 Mar 2020
School
Department
Course
Professor
Document Summary
Syndrome first described in 1866 by john langton down. Phenotypic types: trisomy 21 in which every cell is affected, mosaicism in which some but not all cells have three copies of chromosome 21. Display some or all of the characteristics of down"s syndrome. Directly related to # of cells affected: translocation in which a piece of a chromosome 21 is located on another chromosome. Exhibit all of the characteristics of down syndrome. Brushfield spots: spots on the eyes. Hearing impairment: also frequent ear infections, can lead to conductive hearing loss. Brush field spots: seen in the iris of the eyes. Congenital heart defects: at increased risk, often times septal defects. Neurologic assessment at wcc to look for clinical manifestations of spinal cord compression. Cervical spine x-ray between 1-3 yrs (possible) Know about this for kids undergoing surgery: affects how they are intubated. Dietary counseling: education on healthy foods, encourage physical activity.
