NURS 2770 Lecture Notes - Lecture 12: Pierre Robin Syndrome, Congenital Disorder, Chromosome Abnormality
10 Jun 2019
School
Department
Course
Professor
Document Summary
Chapter 21: the child with cognitive, sensory, or communication impairment. Chapter 20: the child with hematologic or immunologic dysfunction. Phenotype: observed characteristics can be influenced by environment. Syndrome: a recognized pattern of malformations with a single, specific anatomic physiologic or biochemical cause. ie. down syndrome. Sequence: when a ringle anomaly leads to a single cascade of additional abnormalities ie. pierre robin sequence. Association: is a non random pattern of malformations for which the cause varies from person to person ie. vacterl. Spectrum disorder: a disorder in which there can be a wide range of presenting characteristics ie. autism spectrum disorder. Congenital anomaly: alteration occurring from influences in utero. Genetic disorder: problem resulting from changes in genes. Hereditary: trait or disorder inherited from parents. Harmful exposures in utero causes mutations ie. drugs, infections. 2 genes = disease; 1 gene = carrier. Ex. cystic fibrosis, sickle cell disease, malignant infantile osteopetrosis. Ex. heart disease, asthma, cleft lip/palate, juvenile idiopathic arthritis.
