genetics and pathobio 2 Flashcards
what is spectrum of dysmorphic phenotypes
minor to major anomalies
def. minor anomalies
unusual anatomic feature that is of no consequence to PT
2 types of major anomoalies
- primary - malformation
2. secondary - disruption or deformation
what is 3 or more minor anomalies
points to covert anomalies or syndromic diagnosis
def. malformation
morphological defect of an organ resulting from an intrinsically abnormal dev. process
def. disruption
morphological defect resulting from the extrinsic breakdown or interference with a normally developing process
def. deformation
abnormal shape or form caused by mechanical forces
def. dysplasia
abnormal organisation of cells into tissue
2 classes of birth defects
- single
2. multiple
3 types of multiple defects
- sequence
- syndrome
- association
def. sequence
a pattern of multiple anomalies derived from a single known or presumed underlying prior anomaly (like ogliohydramnoes)
def. association
non-random occurence of indep. malformations whose etiology is unknown - eg. VACTERL
def. syndrome
recognized pattern of dev. independent malformations from one etilogy (eg. down’s syndrome)
check out the matching things
mmm. hmm…