Congenital UW Flashcards
DiGeorge what microdeletion?
22q11.2
1 pouche what?
primary tympanic cavity, auditory tube
primary tympanic cavity, auditory tube?
1 pouche
2 pouch?
Palatine tonsil
Palatine tonsil
2 pouch
3 pouch?
parathyroid gland (inferior);
thymus
parathyroid gland (inferior);
thymus?
3 pouch
4 pouch?
parathyroid gland (superior),
ultimobranchial body
parathyroid gland (superior),
ultimobranchial body?
4 pouch
neural crest fails to migrate into derivates of the 3rd and 4th pharyngeal pouches –> what hypoplasia –> what symtoms?
–> parathyroid and thymic hypoplasia -> hypocalcemia and T cell deficiency.
Hypocalcemia in digeorge, what symtoms?
increased neuromuscular excitability, which manifest as tetany, carpopedal spasm and seizures.
hypocalcemia. tapping on the FACIAL nerve leads to twitching of the nose and lips?
Chvostek sign
hypocalcemia. inflation of the blood pressure cuff leads to carpal spasm?
trousseau sign
trousseau sign?
hypocalcemia. inflation of the blood pressure cuff leads to carpal spasm
Chvostek sign?
hypocalcemia. tapping on the FACIAL nerve leads to twitching of the nose and lips
if additionally in digeorge are involved 1st and 2nd pouches, what symtoms?
hypertelorism, short palpebral fissures, micrognathia, bifid uvula, cleft palate
hypertelorism, short palpebral fissures, micrognathia, bifid uvula, cleft palate?
if additionally in digeorge are involved 1st and 2nd
anancephaly - what part failure to close?
Anterior neuropore
Anterior neuropore?
anancephaly
anancephaly - how to prevent?
Neural tube defects can be prevented with maternal folic acid supplementation.
foramen cecum? what disease
thyroglosal cyst
thyroglosal cyst?
foramen cecum
rathke pouch?
craniopharyngioma
craniopharyngioma?
rathke pouch
craniopharyngioma - symtoms?
hypopituitarism, hydrocephalus, diabetes insipidus;
NO HYPOCALCEMIA
hypopituitarism, hydrocephalus, diabetes insipidus? NO HYPOCALCEMIA
craniopharyngioma
rathke pouch - normaly develops to what?
anterior pituitary
persistence of second branchial cleft (ie, second pharyngeal groove)?
Persistence leads to a branchial cleft cyst between the angle of the mandible and sternocleidomastoid muscle.
Persistence leads to a branchial cleft cyst between the angle of the mandible and sternocleidomastoid muscle?
persistence of second branchial cleft (ie, second pharyngeal groove)
The thyroid gland is formed from an …….
outpouching (evagination) of the pharyngeal epithelium and subsequently descends to the lower neck anterior to the upper trachea and larynx.
thyroglossal duct extends from what to what?
from the foramen cecum on the dorsal surface of the tongue to the superior border of the thyroid isthmus
lingual thyroid - what embriologic process is impaired?
MIGRATION
Enlargement of a lingual thyroid can lead to what symptoms?
obstructive symptoms (eg, dysphagia, dysphonia, dyspnea), typically during times of heightened thyroid stimulation (eg, puberty, pregnancy).
Sometimes, this lingual thyroid is the only thyroid tissue in the body, so hypothyroidism can occur if it is removed.
.
Failure of apoptosis during fetal development can result in what?
duodenal atresia and syndactyly (ie, fusion of adjacent digits).
duodenal atresia and syndactyly (ie, fusion of adjacent digits)?
Failure of apoptosis during fetal development
Do thyroid cells differentiate after their descent from the pharynx?
yes
defective differentiation - what thyroid consequence?
Impaired thyroid follicle formation
What is fusion?
Fusion is the joining of two opposing tissues to form one continuous structure.
Disruption of fusion? what diseases
variety of birth defects, including cleft palate, atrioventricular septal defects, pancreatic divisum, and neural tube defects.
Failure of PROLIFERATION during fetal development can result in …
organ hypoplasia (eg, thymus abnormalities in DiGeorge syndrome).
posterior pituitary arises from what?
extension of hypothalamic neurons
Rathkes pouch cells remain where during pituitary development?
in diencephalon (posterior region of the forebrain)
craniopharyngioma. 3 components?
solid (tumor cells)
cystic (machinery oil liquid)
calcifications
FA. Thyroid diverticulum arises from?
floor of the primitive pharynx –> and descends into the neck
FA. Thyroid diverticulum conected to tongue by …
thyroglosal duct
FA. What normally happens to thyroglosal duct?
dissapers;
if persists, then as a cyst or pyramidal lobe of thyroid
FA. What is normal remnant of the thyroglosal duct?
foramen cecum
FA. Thyroglosal duct cyst presents as?2
- anterior midline mass
or 2. protrusion of the tongue
FA. differ thyroglosal duct cyst that presents as protrusion of the tongue vs persistent cervical sinus?
persistent cervical sinus leads to pharyngeal cleft cyst in LATERAL neck
FA. Origin of thyroid folicular cells and parafolicular cells (aka C cells that produce calcitonin)?
endoderm
FA. Origin of adrenal cortex?
mesoderm
FA. Origin of adrenal medulla?
neural crest
FA. Origin of anterior pituitary?
oral ectoderm, konkreciau Rathke pouch
