Congenital Anomalies Flashcards Preview

Med 2 - Week 40 > Congenital Anomalies > Flashcards

Flashcards in Congenital Anomalies Deck (13)
Loading flashcards...

Define major anomaly

a structural abnormality of medical, surgical, or cosmetic significance


Define minor anomaly

a structural anomaly, not of medical significance but which may give a clue about the underlying condition
- eg. epicanthic folds, single palmar crease, 5th finger clinodactyly


What % of spontaneous miscarriages are due to major anomalies?

80-85% in the first trimester, 25% in the second trimester


What is the incidence of major anomalies at birth, 2 years, and 5 years?

birth = 2-3%
2 years = 5-7%
5 years = 7-10%


What is the incidence of minor anomalies?

14% of people have at least 1 anomaly

about 1% of people have 2+ anomalies

*if you have 3 or more anomalies, there is a <20% chance of a major structural anomaly


define malformation

morphological defect of an organ, or larger region of the body, resulting from an intrinsically abnormal developmental process


define deformation

an alteration in shape and/or structure, due to aberrant mechanical forces that distort otherwise normal structures

eg: plagiocephaly (odd shaped head due to bicornate uterus or mechanical forces after birth)


define dysplasia

an abnormality in the organization or differentiation of cells within a specific tissue type resulting in clinically apparent structural changes


define disruption

structural defect resulting from destruction of a previously normally formed part


define sequence

a single defect that leads to a number of secondary structural defects


define syndrome

a recognizable pattern of anomalies considered to have a single or specific cause


what are 4 features of FAS?

1. thin upper lip
2. smooth philtrum
3. low nasal bridge
4. small head


how many genetic loci are there associated with height?

at least 1000