Clinical Dysmorphology

Question 1

Are all congenital anomalies genetic?

Answer 1

No

Question 2

Define teratology

Answer 2

Affects of the environment leading to abnormal morphogenesis

Question 3

Whats the difference between malformation, deformation and disruption

Answer 3

Disruption results from a secondary destruction of an organ or tissue which was previously normal whereas deformation is due to application of physical force (due to the presence of abnormal biomechanical force) that can result in dysmorphological features. Malformation are birth defects, generally.

Question 4

Define dysmorphology

Answer 4

It is the study of congenital human malformations (birth defects), particularly those affecting the anatomy of the child

Question 5

Define congenital anomaly

Answer 5

Structural or functional anomalies that happen in the intrauterine life Also called congenital malformations

Question 6

Define syndrome

Answer 6

A primary developmental anomaly of two or more systems due to a common etiology

Question 7

Examples of deformation

Answer 7

Big fetus, small mother, lack of fluid in the amnion

Question 8

Examples of disruptions

Answer 8

Disruption of blood supply,

Question 9

Define Association

Answer 9

A non random recurring pattern of malformations with no defined etiology

Question 10

Define Sequence

Answer 10

A pattern of malformations due to a cascading effect from a single minor alteration early in morphogenesis A single malformation that leads to a downstream effect as a result

Question 11

Flow chart associated with sequence

Answer 11

The disease is Pierr Robins