Limb Development Anomalies

Question 1

What is an anomaly?

Answer 1

A deviation from the normal or expected

Question 2

What is a teratogen?

Answer 2

An agent or factor which causes malformation of an embryo

Question 3

What extrinsic factors are risk factors for limb development anomalies?

Answer 3

Teratogens
Nutrient deficiency
Removka of IUD
Infections
Failed abortions

Question 4

Why is antenatal screening important?

Answer 4

To give information for a specialist delivery, termination of pregnancy and prenatal diagnosis of foetal anomalies

Question 5

What is amelia?

Answer 5

Absence if an entire limb

Question 6

What is acheria?

Answer 6

Absence of hands

Question 7

What is apodia?

Answer 7

Absence if feet

Question 8

What is phocomelia?

Answer 8

Absence or shortening of proximal limb segments

Question 9

What is hemimelia?

Answer 9

Absence of preaxial or postaxial parts of the limb

Question 10

What is meromelia?

Answer 10

A general term for absence of part of the limb

Question 11

What is ectrodactyly?

Answer 11

Absence of any number of digits

Question 12

What is polydactyly?

Answer 12

Excessive number of digits

Question 13

What is syndactyly?

Answer 13

Presence of interdigital webbing

Question 14

What is brachydactyly?

Answer 14

Shortened digits

Question 15

What is marfans syndrome caused by?

Answer 15

It is an AD condition caused by a mutation in the FBN1 gene

Question 16

What is the presentation of marfans syndrome?

Answer 16

Tall stature
Long, thin digits and limbs
Hyperextensible joints
Arched palate
Eye problems
Chest, heart an lung problems

Question 17

How is developmental dysplasia of the hip treated?

Answer 17

Pavlik harness or surgery if detected late