Congenital Anamolies And Syndromes

Question 1

Congenital anomaly

Answer 1

Altered structure of function of tissue/organ that is present at birth or is the result of a process that begins before birth

Question 2

Incidence:
Death in prenatal period
Death in first year
Death from 1-9 years

Answer 2

25%
25%
20%

Question 3

Major anomaly meaning

Answer 3

Functional or cosmetic significance

Question 4

Major anomalies examples

Answer 4

Cleft lip/palate;
Holopresencephaly - forebrain fails to divide into 2 cerebral hemispheres, small head;
Ventricular septal defect- hole between 2 ventricular chambers- congestive heart failure;
Diaphragmatic hernia - diaphragm not fully formed and contents of abdomen move up, press into lungs - cant breathe;
Imperforate anus - no connection between end of colon and outside;

Question 5

Minor anomalies examples

Answer 5

5th toe syndactyly - 5th toe turns in;
2/3 toe syndactyly - webbing of 2nd and 3rd toes;
Epicanthic folds - folds of skin around inside of eye;
Brush field spots - white spots around rim of iris;
Single palmar crease;

Question 6

Pathogenic classifications

Answer 6

Malformation;
Disruption;
Deformation;
Dysplasia;

Question 7

Malformation

Answer 7

Primary error of morphogenesis - imprint for development of tissue/organ is not in the normal way it is programmed to develop;

Question 8

Disruption

Answer 8

Destruction of normally developed/developing organs/tissues;

Eg. Trauma, infection, stroke

Question 9

Deformation

Answer 9

Mechanical distortion of normally developed/developing tissues/organs

Question 10

Dysplasia

Answer 10

Abnormal organisation of cells into tissues

Question 11

Clinical classification

Answer 11

Isolated congenital abnormality;

Multiple congenital abnormalities - syndrome, association and sequence;

Question 12

Syndrome

Answer 12

Set of congenital abnormalities that occur together;
Consistent;
Has a known cause;

Question 13

Association

Answer 13

Set of congenital abnormalities that occur together;
No consistency;
Unknown cause;

Question 14

Sequence

Answer 14

Multiple abnormalities arising from a primary abnormality

Question 15

Potter sequence

Answer 15

Severe renal abnormality/urethral obstruction;
Reduced urinary output;
Oligohydraminos/anhydraminos (little, no amniotic fluid);

Potter facies, pulmonary hypoplasia (no amniotic fluid going to lungs - cant breathe) and dislocated hips, talipes

Question 16

Aetiology (why do people have C.A.?)

Answer 16

Genetic (30-40%) - single gene defects, chromosomal;
Environmental (5-10%) - maternal illnesses, infections, drugs and chemicals, physical agents;
Unknown (50%)

Question 17

Multifactorial abnormalities

Answer 17

Abnormalities that have to be treated by a paediatric surgeon;

Cleft lip/palate;
Congenital heart disease;
Congenital hip dislocation;
Neural tube defect (no head, star-gazing appearance);

Question 18

Teratogenic drugs

Answer 18

Ace inhibitors;
Alcohol
Anti convulsants - sodium valproate
Thalidomide;
Vitamin A;
Warfarin;

Question 19

Infectious teratogens

Answer 19

Rubella;
Syphilis;
Herpes;
Parvovirus B19 - affects bone marrow - no RBCs - anaemia;

Question 20

Congenital rubella

Answer 20

High risk of fetal infection in first trimester;
Clinical features:
Cataracts;
Congenital heart disease;
Blueberry muffin skin lesions;
Ocular abnormalities;

Blindness;
Deafness;
Mental retardation;

Question 21

Maternal illnesses

Answer 21

Diabetes mellitus;
Phenylketonuria;
Hyperthermia;
Myasthenia gravis;
Lupus;

Question 22

Diabetic embryopathy

Answer 22

Caudal regression sequence (bottom end of spine not formed, dimples);
Congenital heart disease;
Genito-urinary abnormalities;
Neural tube defects;
Femoral hypoplasia - unusual facies syndrome;