Developmental diseases morphology

Question 1

Amelia

Answer 1

Absence of limb or limbs

Question 2

Hemimelia

Answer 2

Absence of all or part of distal part of limb

Question 3

Holoprosencephaly

Answer 3

Failure of proper embryonic forebrain. Lots of different manifestations depending on when it occurs

Question 4

Schistosomus reflexus

Answer 4

Inversion of the spine. Abdominal viscera are outside of the body, and joint lesions

Question 5

Amorphous globosus

Answer 5

Spherical fetus that lacks differentiation of phenotypic body parts

Question 6

Hemivertebrae

Answer 6

Half of vertebral body fails to form, get wedge shaped vertebra

Question 7

Scoliosis

Answer 7

Lateral deviation of the spine

Question 8

Kyphosis

Answer 8

Dorsal/ventral deviation of spine (hunchback)

Question 9

Arthrogryposis

Answer 9

Flexure or contracture of joint

Question 10

Brachygnathia

Answer 10

Shortening of mandible relative to maxilla

Question 11

Prognathia

Answer 11

Lengthening of mandible relative to maxilla

Question 12

Chondrodysplasia

Answer 12

Abnormal development of cartilage. Get short long bones and spine

Question 13

Osteopetrosis

Answer 13

Increased bone density due to osteoclasts not resorbing bone. Fragile and prone to fracture and can compress other structures

Question 14

Anencephaly

Answer 14

Neural tube defect where part of the brain and skull are absent

Question 15

Microcephaly

Answer 15

Head is smaller than normal often a incompletely developed brain. Usually due to virus like BVD or panleukemia

Question 16

Hydrocephalus

Answer 16

Excessive fluid in the ventricles of the brains. Can be acquired or congenital. Still see grey and white matter

Question 17

Hydranencephaly

Answer 17

Failure of formation of parts of the cerebrum. No normal grey and white matter

Question 18

Porencephaly

Answer 18

Cyst or cavity within the cerebrum due to abnormal development or destructive/viral lesions

Question 19

Aortic and pulmonary stenosis

Answer 19

Narrowing of the aortic or pulmonary valves which restricts blood flow. Leads to ventricular hypertrophy

Question 20

Patent ductus arteriousus

Answer 20

Ductus arteriousus doesn’t close after birth. Oxygenated blood can flow back into the lungs

Question 21

Truncus arteriosus

Answer 21

Failure of separation of the aorta and pulmonary artery resulting in a single vessel with common valve. Mix oxygenated and nonoxygenated blood

Question 22

Tetralogy of fallot

Answer 22

Combo of pulmonic stenosis, ventricular septal defect, overriding aorta and right ventricular hypertrophy

Question 23

Overriding aorta

Answer 23

Aorta shifted slightly to the right and lies directly above the ventricular septal devect and recieves blood from both sides

Question 24

Ventricular septal defects

Answer 24

Incomplete formation of the interventricular septum, hole allows communication between left and right. Loose pressure differentials

Question 25

Hermaphrodites

Answer 25

Has ovaries and testicular tissues. Ambiguous external genitalia. Have male and female chromosomes

Question 26

Male Pseudohermaphrodites

Answer 26

Testes with chromosomal constitution but female external genitalia

Question 27

Female pseudohermaphrodite

Answer 27

Ovaries with chromosomal constitution but with make external genitalia

Question 28

Freemartinism

Answer 28

Heifer and bull calf twins where male hormones inhibit female hormones and inhibit female repro tract. See hypoplasia often

Question 29

Hypotrichosis

Answer 29

Reduction in the amount of hair

Question 30

Collagen dysplasia

Answer 30

Group of disease of connective tissue that result in reduced strength of the affected structure

Question 31

Ichthyosis

Answer 31

Thick, dry, scaling skin. Looks like fish scales