Congenital UW

Question 1

DiGeorge what microdeletion?

Answer 1

22q11.2

Question 2

1 pouche what?

Answer 2

primary tympanic cavity, auditory tube

Question 3

primary tympanic cavity, auditory tube?

Answer 3

1 pouche

Question 4

2 pouch?

Answer 4

Palatine tonsil

Question 5

Palatine tonsil

Answer 5

2 pouch

Question 6

3 pouch?

Answer 6

parathyroid gland (inferior);
thymus

Question 7

parathyroid gland (inferior);
thymus?

Answer 7

3 pouch

Question 8

4 pouch?

Answer 8

parathyroid gland (superior),
ultimobranchial body

Question 9

parathyroid gland (superior),
ultimobranchial body?

Answer 9

4 pouch

Question 10

neural crest fails to migrate into derivates of the 3rd and 4th pharyngeal pouches –> what hypoplasia –> what symtoms?

Answer 10

–> parathyroid and thymic hypoplasia -> hypocalcemia and T cell deficiency.

Question 11

Hypocalcemia in digeorge, what symtoms?

Answer 11

increased neuromuscular excitability, which manifest as tetany, carpopedal spasm and seizures.

Question 12

hypocalcemia. tapping on the FACIAL nerve leads to twitching of the nose and lips?

Answer 12

Chvostek sign

Question 13

hypocalcemia. inflation of the blood pressure cuff leads to carpal spasm?

Answer 13

trousseau sign

Question 14

trousseau sign?

Answer 14

hypocalcemia. inflation of the blood pressure cuff leads to carpal spasm

Question 15

Chvostek sign?

Answer 15

hypocalcemia. tapping on the FACIAL nerve leads to twitching of the nose and lips

Question 16

if additionally in digeorge are involved 1st and 2nd pouches, what symtoms?

Answer 16

hypertelorism, short palpebral fissures, micrognathia, bifid uvula, cleft palate

Question 17

hypertelorism, short palpebral fissures, micrognathia, bifid uvula, cleft palate?

Answer 17

if additionally in digeorge are involved 1st and 2nd

Question 18

anancephaly - what part failure to close?

Answer 18

Anterior neuropore

Question 19

Anterior neuropore?

Answer 19

anancephaly

Question 20

anancephaly - how to prevent?

Answer 20

Neural tube defects can be prevented with maternal folic acid supplementation.

Question 21

foramen cecum? what disease

Answer 21

thyroglosal cyst

Question 22

thyroglosal cyst?

Answer 22

foramen cecum

Question 23

rathke pouch?

Answer 23

craniopharyngioma

Question 24

craniopharyngioma?

Answer 24

rathke pouch

Question 25

craniopharyngioma - symtoms?

Answer 25

hypopituitarism, hydrocephalus, diabetes insipidus; NO HYPOCALCEMIA

Question 26

hypopituitarism, hydrocephalus, diabetes insipidus? NO HYPOCALCEMIA

Answer 26

craniopharyngioma

Question 27

rathke pouch - normaly develops to what?

Answer 27

anterior pituitary

Question 28

persistence of second branchial cleft (ie, second pharyngeal groove)?

Answer 28

Persistence leads to a branchial cleft cyst between the angle of the mandible and sternocleidomastoid muscle.

Question 29

Persistence leads to a branchial cleft cyst between the angle of the mandible and sternocleidomastoid muscle?

Answer 29

persistence of second branchial cleft (ie, second pharyngeal groove)

Question 30

The thyroid gland is formed from an .......

Answer 30

outpouching (evagination) of the pharyngeal epithelium and subsequently descends to the lower neck anterior to the upper trachea and larynx.

Question 31

thyroglossal duct extends from what to what?

Answer 31

from the foramen cecum on the dorsal surface of the tongue to the superior border of the thyroid isthmus

Question 32

lingual thyroid - what embriologic process is impaired?

Answer 32

MIGRATION

Question 33

Enlargement of a lingual thyroid can lead to what symptoms?

Answer 33

obstructive symptoms (eg, dysphagia, dysphonia, dyspnea), typically during times of heightened thyroid stimulation (eg, puberty, pregnancy).

Question 34

Sometimes, this lingual thyroid is the only thyroid tissue in the body, so hypothyroidism can occur if it is removed.

Answer 34

.

Question 35

Failure of apoptosis during fetal development can result in what?

Answer 35

duodenal atresia and syndactyly (ie, fusion of adjacent digits).

Question 36

duodenal atresia and syndactyly (ie, fusion of adjacent digits)?

Answer 36

Failure of apoptosis during fetal development

Question 37

Do thyroid cells differentiate after their descent from the pharynx?

Answer 37

yes

Question 38

defective differentiation - what thyroid consequence?

Answer 38

Impaired thyroid follicle formation

Question 39

What is fusion?

Answer 39

Fusion is the joining of two opposing tissues to form one continuous structure.

Question 40

Disruption of fusion? what diseases

Answer 40

variety of birth defects, including cleft palate, atrioventricular septal defects, pancreatic divisum, and neural tube defects.

Question 41

Failure of PROLIFERATION during fetal development can result in ...

Answer 41

organ hypoplasia (eg, thymus abnormalities in DiGeorge syndrome).

Question 42

posterior pituitary arises from what?

Answer 42

extension of hypothalamic neurons

Question 43

Rathkes pouch cells remain where during pituitary development?

Answer 43

in diencephalon (posterior region of the forebrain)

Question 44

craniopharyngioma. 3 components?

Answer 44

solid (tumor cells) cystic (machinery oil liquid) calcifications

Question 45

FA. Thyroid diverticulum arises from?

Answer 45

floor of the primitive pharynx --> and descends into the neck

Question 46

FA. Thyroid diverticulum conected to tongue by ...

Answer 46

thyroglosal duct

Question 47

FA. What normally happens to thyroglosal duct?

Answer 47

dissapers; if persists, then as a cyst or pyramidal lobe of thyroid

Question 48

FA. What is normal remnant of the thyroglosal duct?

Answer 48

foramen cecum

Question 49

FA. Thyroglosal duct cyst presents as?2

Answer 49

1. anterior midline mass or 2. protrusion of the tongue

Question 50

FA. differ thyroglosal duct cyst that presents as protrusion of the tongue vs persistent cervical sinus?

Answer 50

persistent cervical sinus leads to pharyngeal cleft cyst in LATERAL neck

Question 51

FA. Origin of thyroid folicular cells and parafolicular cells (aka C cells that produce calcitonin)?

Answer 51

endoderm

Question 52

FA. Origin of adrenal cortex?

Answer 52

mesoderm

Question 53

FA. Origin of adrenal medulla?

Answer 53

neural crest

Question 54

FA. Origin of anterior pituitary?

Answer 54

oral ectoderm, konkreciau Rathke pouch