1.1 Foetal development and embryology

Question 1

How do you determine the age of a baby?

Answer 1

Last menstrual period 
Weight 
Height 
Organogenesis 
External characteristics 
Radiology 
Histology 
Calcification of bones

Question 2

What are different types of genetic diseases?

Answer 2

chromosomal abnormalities
single gene defects
multifactorial problems
Teratogenic problems

Question 3

define malformation and give an example

Answer 3

Morphological defect of an organ, or larger region of the body, resulting from an intrinsically abnormal development process
- Absence of a thumb due to abnormality of apical ectodemral ridge that controls limb bud development

Question 4

Define defect of an organ

Answer 4

defect of organogenesis wheras one involving a larger area of the body refers to an abnormality of the blastogenesis
- absent thumb and radial aplasia

Question 5

Define dysplasia and give an example

Answer 5

Abnormal organisation of cells into tissues and its morphological results
- Marfan syndrome

Question 6

Define disruption and give an example

Answer 6

Morphological defect of an organ, part of an organ or larger region of the body resulting from extrinsic breakdown of, or interferences with, an originally normal process
- Amniotic band wrapping around a limb producing distal hyperplasia or amputation

Question 7

Define deformation and give an example

Answer 7

abnormal form, shape or position of a part of body caused by mechanical forces
(normal response to an abnormal force)
- Club foot

Question 8

Define anomaly

Answer 8

deviation from expected or average type in structure, form and/or function which is interpreted as abnormal

Question 9

Major anomalies and an example

Answer 9

those with cosmetic or surgical consequences (deformed wrist, limb defect, neurofibromas)

Question 10

Minor anomalies and an example

Answer 10

Despite their diagnostic importance have little impact on the individuals well being
- Clinodactyly, single palmar crease, anteverted nares

Question 11

Define sequences

Answer 11

Pattern of multiple anomalies derived from a single known or presumes prior anomaly or mechanical factor which may be referred to as a comples or anomaly

Question 12

Define a sequence

Answer 12

Cascade of primary and secondary events that are consequences of a single primary malformation or disruption

Question 13

Example of malformation sequence

Answer 13

X linked spina bifida/myelomeningocele sequence - secondary neuropathy of lower limbs, club feet, neurogenic bladder with chronic UTI

Question 14

Example of a dysplasia sequence

Answer 14

Sacrococcygeal teratoma complex with defective sacrum and coccyx, imperforate anus, rectovaginal fistula and urinary tract obstruction

Question 15

Example of a deformation sequence

Answer 15

Bilateral renal agenesis (potters syndrome) with absence of wollfian and mullerian duct derivatives

Question 16

Define syndrome: multiple anomalies thought not to be pathogenetically related and not representing sequence

Answer 16

Down syndrome

Question 17

Define developmental field defects

Answer 17

result of disturbed development of morphogenetic field or pattern thereof

Question 18

define association

Answer 18

Any non random occurence in one or more individuals of sever morphologic defects not identified as a sequence or syndrome