Exam 2 Vocab Flashcards
what is malformation?
a morphological defect of an organ, results from intrinsically abnormal developmental process
what is syndromic cleft lip/palate?
associated with more than 300 malformations
what is nonsyndromic cleft lip/palate?
CLAP, diagnosis by exclusion
what are some traits of cardiac defects?
5-8 per 1000 births, 2-3 of those are symptomatic in first year, major cause of death in first year
what is ventricular septal defects?
most common anomaly of cardiac defects, coarctation of aorta
what is spina bifida occulta associated with?
occulta= closed
what is lipomeningocele associated with?
lipoma or fatty tumor located over the spine
what is meningocele associated with?
fluid filled sac but neural tissue unaffected
what is myelomeningocele associated with?
spina bifida
what are some lifelong disabilities associated with spina bifida?
paralysis, loss of bowel and bladder control, learning disabilities
what is folic acid’s importance?
used to prevent anemia, neural tube defects, CAD, stroke and cancer
what is significant about S-adenosyl methionine?
aka SAM most important carrier of methyl groups
what are the major roles of folic acid aka vitamin b9?
involved in the biosynthesis of thymidylate and the purine nucleic acid bases and involved in the methylation of homocysteine to produce methionine
what is disruption?
morphological defect of an organ, results from extrinsic breakdown of the normal developmental process (trauma or teratogen)
what is cataract caused by?
congenital rubella infection
what are limb defects caused by?
due to talidomide exposure
what is a teratogen?
a drug able to produce defects in the developing fetus
what is amelia
complete absence of limbs
what is phocomelia
absense of middle portion of the limb
what is hypoplasia
the absence of some bones
what does the immunomodulatory properties of thalidomide therapeutic properties treat?
leprosy
what does non immunomodulatory properties of thalidomide therapeutic properties treat
cancer
what is deformation
morphological defect of an organ, results from abnormal mechanical force
what is club foot
most common disorder of the lower extremity, one of both feet turn downward or inward
what is dysplasia
morphological defect of a tissue, results from abnormal organization of cells into tissue, often caused by single gene defects
what is achondroplasia
accounts for 70% of diagnosed cases of dwarfism, abnormal body proportions, hump on back, large head and flat nose, shortened stubby fingers, trident hand
what is sequence
cascade of defects, arise from single prior anomaly or mechanical complex, usually sporadic with low recurrence risk
what is a syndrome
pattern of defects (not causing each other but altogether caused by same cause), pattern of abnormalities is consistent and recognizable
what is waardenburg syndrome?
piebaldism, deafness, and patching skin coloring. Caused by RET gene mutation
what is the KIT gene mutation responsible for?
piebaldism