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Step 1 > Embryology > Flashcards

Embryology Flashcards

1
Q

Holoprosencephaly can result from deficiency of which gene?

A

Sonic hedgehog

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2
Q

Give the basic role in embryogenesis of each of the following genes: sonic hedgehog, Wnt-7, FGF, homeobox

A

SHH - antero-posterior patterning, Wnt-7 - dorsal-ventral patterning, FGF - limbs, Homeobox - segmentation

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3
Q

Defect of which gene can lead to synpolydactyly (fusion of supranumery digits)

A

HOXD13

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4
Q

What is the anterior pituitary an embryological derivative of?

A

Rathkes pouch, which is a derivative of surface ectoderm

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5
Q

What structures does the neural crest give rise to (12)

A

ANS, DRG, CNs, Celiac ganglion, Melanocytes, Adrenal medulla, Parafollicular cells of thyroid, Schwann cells, Pia and arachnoid, bones of skull, odontoblasts, aorticopulmonary septum

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6
Q

What is the embryologic derivation of melanocytes, the adrenal medulla, and parafollicular cells of the thyroid respectively?

A

All are from neural crest

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7
Q

VACTERL

A

Mesodermal defects. Vertebral defects, Anal atresia, Cardiac defects, TE fisula, Renal defects, Limb defects (bone and muscle)

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8
Q

Teratogenic effect of ACE inhibitors

A

Renal damage

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9
Q

Teratogenic effect of alkylating agents

A

Absence of digits, multiple anomalies

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10
Q

Teratogenic effect of aminoglycosides

A

CN 8 toxicity

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11
Q

Teratogenic effect of carbamazepine

A

Neural tube defects, craniofacial defects, fingernail hypoplasia, developmental delay, IUGR

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12
Q

Teratogenic effect of lithium

A

Ebsteins anomaly (atrialized right ventricle)

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13
Q

Teratogenic effect of phenytoin

A

Fetal hydrantoin syndrome - microcephaly, dysmorphic craniofacial features, hypoplastic nails and distal phalanges, cardiac defects, IUGR, MR

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14
Q

Teratogenic effect of tetracyclines

A

discolored teeth

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15
Q

Teratogenic effect of valproate

A

Inhibits maternal folate absorption - neural tube defects

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16
Q

Teratogenic effect of warfarin

A

Bone deformities, fetal hemorrhage, abortion, ophthalmologic abnormalities

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17
Q

What teratogen is associated with ADHD?

A

Smoking

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18
Q

Effects of maternal diabetes on the fetus

A

Caudal regression syndrome (anal atresia to sirenomelia), congenital heart defects, neural tube defects

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19
Q

Microcephaly, holoprosencephaly, facial abnormalities (cleft lip and palate), limb dislocation, heart and lung fistulas, MR

A

Fetal alcohol syndrome

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20
Q

What is the embryonic predecessor to the ascending aorta and pulmonary trunk

A

Truncus arteriosus

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21
Q

What is the embryonic predecessor to the RV and smooth parts of the LV and RV

A

Bulbus cordis

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22
Q

What is the embryonic predecessor to the trabeculated LV and RV

A

Primitive ventricle

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23
Q

What is the embryonic predecessor to the trabeculated LA and RA

A

Primitive atria

24
Q

What is the embryonic predecessor to the coronary sinus?

A

Left horn of the sinus venosus

25
Q

What is the embryonic predecessor to the smooth part of the RA?

A

Right horn of the SV

26
Q

What is the embryonic predecessor to the SVC?

A

Right common cardinal vein and right anterior cardinal vein

27
Q

What heart defect is found in 20 to 30 percent of healthy adults?

A

Patent foramen ovale

28
Q

Give the fetal precursors for each of the following: umbilical vein, umbilical arteries, allantois, and notochord

A

Umbilical vein - ligamentum teres hepatis, umbilical arteries - medial umbilical ligaments, allantois - urachus-median umbilical ligament, notochord - nucleus pulposus of IV discs

29
Q

From what embryonic structure does the aqueduct of sylvius arise?

A

Mesencephalon

30
Q

Two causes of increased aFP during pregnancy

A

Neural Tube Defect and anterior abdominal wall defect (omphalocele)

31
Q

In syringomyelia what is in large, what is it associated with, and where does this most often occur?

A

Central canal of the spinal cord, Chiari II, C8-T1

32
Q

3rd aortic arch derivatives

A

Common carotid and proximal part of the internal carotid

33
Q

6th aortic arch derivatives

A

Proximal part of pulmonary arteries and ductus arteriosus

34
Q

What are the branchial clefts, arches, and pouches derived from respectively?

A

Clefts - ectoderm, arches - mesoderm and neural crests, pouches - endoderm

35
Q

A thyroglossal duct cyst is midline while a branchial cleft cyst is lateral. What is another easy way to tell them apart?

A

Branchial cleft cyst will not move on swallowing, thyrglossal duct cyst will

36
Q

Fate of branchial clefts 1-4

A

1 - external auditory meatus, 2 through 4 are obliterated

37
Q

Treacher Collins syndrome

A

Failure of 1st arch neural crest cells to migrate. Mandibular hypoplasia, facial abnormalities

38
Q

Cartilage, muscles, and nerves of branchial arch 1

A

Mandible, Malleus, incus, spheno-Mandibular ligament. Muscles of Mastication, Myelohyoid, ant 2/3 of tongue muscles. V2 and V3

39
Q

Cartilage, muscles, and nerves of branchial arch 2

A

Stapes, Styloid Process, lesser horn of hyoid, Stylohyoid ligament. Muscles of facial expression, Stapedius, Stylohyoid, post belly of digastric. CN 7

40
Q

Cartilage, muscles, and nerves of branchial arch 3

A

Greater horn of hyoid. Stylopharyngeus. CN 9

41
Q

Cartilage, muscles, and nerves of branchial archs 4-6

A

Thyroid, cricoid, arytenoid, corniculate, cuneiform cartilages. Cricothyroid lev veli palatini (4), intrinsic muscles of larynx except cricothyroid (6). CN 10 superior laryngeal br (4) and recurrent laryngeal branch (6)

42
Q

What nerve is at risk during thyroidectomy and what muscle may this paralyze?

A

Superior laryngeal nerve. Cricothyroid muscle (both from branchial arch 4)

43
Q

What is congenital pharyngeo-cutaneous fistula and what structure is it a defect in the development of?

A

Fistula between tonsillar area and clef in lateral neck. Branchial arch 3

44
Q

What branchial arch forms the posterior third of the tongue?

A

Arches 3 and 4

45
Q

Derivatives of branchial pouch 1

A

Middle ear cavity, eustachian tube, mastoid air cells

46
Q

Derivatives of branchial pouch 2

A

Epithelial lining of palatine tonsil

47
Q

Derivatives of branchial pouch 3

A

Inferior parathyroids (dorsal wings), and thymus (ventral wings)

48
Q

Derivatives of branchial pouch 4

A

Superior parathyroids (dorsal wings)

49
Q

DiGeorge syndrome is aberrant development of what embryonic structures?

A

Branchial pouches 3 and 4

50
Q

Cleft lip results from failure of fusion of what structures?

A

Maxillary and medial nasal processes

51
Q

Cleft palate results from failure of fusion of what structures?

A

Lateral palatine process, nasal septum, and/or median palatine process

52
Q

Gastroschisis

A

Extrusion of abdominal contents through abdominal folds and not covered by peritoneum

53
Q

Omphalocele

A

Persistence of herniation of abdominal contents into umbilical cord, covered by peritoneum

54
Q

What obstructs the rise of a horseshoe kidney?

A

IMA

55
Q

A bicornuate uterus results from failure to fuse of what structures?

A

The paramesonephric ducts

56
Q

What cell produces anti-mullerian hormone?

A

Sertoli cell

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