Congenital Deformity

Question 1

What is neuralation and when does it occur?

Answer 1

The formation of the nervous system in the embryo which occurs at day 25.

Question 2

Which embryonic layer is the nervous system formed from?

Answer 2

Ectoderm

Question 3

What embryonic layer does the notochord come from and what does it form?

Answer 3

Notochord comes from the mesoderm and forms the nucleus pulposus of the spinal cord.

Question 4

The neural tube forms…

Answer 4

Spinal cord

Question 5

Somites form…

Answer 5

Bony vertebral bodies and fibrous annulus fibrosus.

Question 6

When does limb development start?

Answer 6

Limb formation starts at 4 weeks and limbs rotate out at 8 weeks.

Question 7

Summary of limb development.

Answer 7

Question 8

What is the Heuter Volkman principle?

Answer 8

Heuter Volkman principle is an orthopedic rule regarding bone growth which states that compression forces inhibit growth and tensile forces stimulate growth.

Question 9

Neural tube defect at the cranial end can lead to what?

Answer 9

Encephalocele

Question 10

What is Fanconi anemia?

Answer 10

Fanconi anemia is a rare disease passed down through families (inherited) that mainly affects the bone marrow. It results in decreased production of all types of blood cells. This is the most common inherited form of aplastic anemia.

Question 11

What is radial club hand?

Answer 11

Radial club hand. Radial club hand is a congenital (present at birth) hand anomaly where the radius bone in the arm is missing or underdeveloped, causing the hand to be bent towards the body (radially deviated). It is also known as radial ray deficiency or anomaly.

Question 12

What is Fibular hemimelia?

Answer 12

Fibular hemimelia is a birth defect where part or all of the fibular bone is missing, as well as associated limb length discrepancy, foot deformities, and knee deformities. Fibular hemimelia (FH) is a very rare disorder, occurring in only 1 in 40,000 births.

Question 13

Growth plate histology

Answer 13

Question 14

Apert syndrome

Answer 14

Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Question 15

Which gene is implication in Apert syndrome?

Answer 15

FGF2 gene

Question 16

Defects of spine formation

Answer 16

Question 17

What is ulnar dimelia?

Answer 17

Ulnar dimelia, also referred to simply as mirror hand, is a very rare congenital disorder characterized by the absence of the radial ray, duplication of the ulna, duplication of the carpal, metacarpal, and phalanx bones, and symmetric polydactyly.

Question 18

Which gene is implicated in ulnar dimelia?

Answer 18

SHH gene

(Sonic hedgehog)

Question 19

What can a hemi-hypertrophy be a sign of?

Answer 19

Wilm’s tumours.

Hemi-hypertrophy can present on one side of the body or in one muscle.

Question 20

What is amniotic band syndrome?

Answer 20

Amniotic band syndrome (ABS) is a rare birth defect in which bands of tissue inside the sac of fluid that surrounds a baby in the womb tangle around the baby’s body causing injury. This happens when there is a rupture in the inside sac (amnion).

Question 21

Achondroplasia

Answer 21

Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature with a normal sized torso and short limbs. It’s the most common type of disproportionate dwarfism.

Question 22

Hereditary multiple exostoses

Answer 22

Hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses (exostoses) in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones. They are also known as osteochondromas.

Question 23

Cleidocranial dysplasia

Answer 23

Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels).

Question 24

What is club foot deformity?

Answer 24

In clubfoot, the tendons on the inside of the leg are shortened, the bones have an unusual shape, and the Achilles tendon is tightened. If left untreated, the person may appear to walk on their ankles or the sides of their feet.

Question 25

Developmental dysplasia of the hip (DDH)

Answer 25

Developmental dysplasia of the hip (DDH) is a condition where the “ball and socket” joint of the hip does not properly form in babies and young children. It’s sometimes called congenital hip dislocation or hip dysplasia.

Question 26

Galeazzi Test

Answer 26

Question 27

What deformity is shown in this image?

Answer 27

Apert Syndrome

Question 28

What deformity is shown in this image?

Answer 28

Hereditary multiple exotoses

Question 29

What deformity is shown in this image?

Answer 29

Developmental dysplasia of the hip

Question 30

What deformity is shown in this image?

Answer 30

Fibula hemimelia

Question 31

What deformity is shown in this image?

Answer 31

Club foot deformity

Question 32

What deformity is shown in this image?

Answer 32

Ulnar dimelia

Question 33

What deformity is shown in this image?

Answer 33

Radial club hand