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Embryology > Exam 3 Material > Flashcards

Exam 3 Material Flashcards

1
Q

The yolk sac endoderm gives rise to…

A

gut epithelium and glands.

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2
Q

The smooth muscles and connective tissue of the digestive system are derived from…

A

splanchnic mesoderm

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3
Q

Esophageal atresia

  • What is it?
  • What causes it?
  • Symptoms
A
  • Esophagus ending in closed tube
  • Caused by tracheo-esophageal septum deviating posteriorly
  • Polyhydramnios often associated with this
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4
Q

Dorsal mesogastrium forms what in the adult?

A
  • Gastrosplenic ligament
  • Splenorenal ligament
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5
Q

Hypertrophic pyloric stenosis

  • What is it?
  • What causes it?
  • Symptoms
A
  • Excessive growth of pyloric sphincter
  • Caused when pyloric smooth muscle hypertrophies, obstructing food passage
  • Symptoms include projectile vomiting after feeding
    • Small knot can be felt at right costal margin
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6
Q

Duodenal stenosis

  • What is it?
  • What causes it?
A
  • Narrowing of lumen of duodenum
  • Caused by failed recanalization
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7
Q

Duodenal atresia

  • What is it?
  • What causes it?
  • Associated with…
  • Symptoms
  • Radiograph
A
  • Occlusion of duodenal lumen
  • Caused by failed recanalization
  • Associated with Down’s syndrome
  • Symptoms:
    • Polyhydramnios due to low intestinal reabsorption of amniotic fluid
    • Bilious vomiting shortly after birth
    • No abdominal distension
  • Double-bubble sign shown on prenatal ultrasonography
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8
Q

The adult pancreas is derived from…

A

dorsal and ventral pancreatic buds that merge when ventral bud is brought posterior due to duodenal rotation.

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9
Q
  • The ventral pancreatic bud contributes to…
  • The ventral bud duct forms the…
A
  • pancreatic head, uncinate process
  • main pancreatic duct
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10
Q
  • The dorsal bud forms…
  • The dorsal bud duct may persist as…
A
  • the body and tail of the pancreas
  • the accessory pancreatic duct
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11
Q

Annular pancreas

  • What is it?
  • What causes it?
  • Symptoms
A
  • Ring of pancreatic tissue around duodenum
  • Caused when ventral pancreatic bud splits to fuse with dorsal bud both ventrally and dorsally
  • Symptoms include duodenal obstruction shortly after birth
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12
Q

Hepatic diverticulum

  • Cranial end forms what?
  • Caudal end forms what?
A
  • Cranial portion forms liver
  • Caudal portion forms gallbladder and cystic duct
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13
Q

Extrahepatic biliary atresia

  • What is it?
  • Symptoms
A
  • Obliteration of the bile ducts
  • Symptoms:
    • Jaundice soon after birth
    • Acholic stools
    • Dark urine
    • Enlarged, firm liver
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14
Q
  • Malrotation of the midgut presents with…
  • What does it predispose infant to?
A
  • Intestinal obstruction shortly after birth
    • Bilious vomiting
    • Distension
  • Can predispose infant to volvulus, where twisting of intestines around short mesentery, often interfering with intestinal blood supply.
    • Can cause necrotic bowel (presents witn peritonitis)
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15
Q

Congenital omphalocele

  • What is it?
  • What causes it?
  • Symptoms
  • What is it associated with?
A
  • Persistence of midgut herniation in umbilical cord
  • Caused by failure of intestines to return to abdominal cavity
  • The herniated gut is enclosed by umbilical cord epithelium
  • Associated with:
    • Trisomy 13, 18, 21
    • Congenital heart disease (TOF, ASD)
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16
Q

Umbilical hernia

A

Occurs when midgut hernia reduces normally, but herniates again through imperfectly closed umbilicus.

Covered by abdominal epithelium

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17
Q

Gastroschisis

  • What is it?
  • What causes it?
  • What is it associated with?
A
  • Abdominal viscera extrude through split in abdominal wall usually to right side
    • Extruded bowel appears matted, edematous, thick with shaggy membrane (“peel”) over it
  • Causedy by incomplete embryonic folding
  • Associated with prematurity
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18
Q

Meckel’s diverticulum

  • What is it?
  • Symptoms
  • What is the rule of 2’s?
A
  • Persistence of proximal yolk stalk
    • most common anomaly of GI tract
  • May become inflamed and present like appendicitis. Can produce ulceration and bleeding
  • Rule of 2’s
    • Found in 2% of population
    • Usually occurs within 2 feet of ileocolic valve
    • 2 types of ectopic tissue (gastric and pancreatic)
    • 2 yo is when most commonly diagnosed
    • 2 inches long
    • More common in males than females (2:1 ratio)
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19
Q

Anorectal agenesis

A

Condition where rectum ends too far superior, either blindly or with a fistula to the bladder, urethra, vagina, or vestibule.

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20
Q

Hirschsprung’s disease (Congenital megacolon)

  • What is it?
  • What causes it?
  • Symptoms
A
  • Neurological dysfunction that affects colon
  • Caused by absence of autonomic ganglia in distal bowel (anus) causing failure of peristalsis in aganglionic segment
  • Symptoms:
    • Enlargement of colon due to accumulation of intestinal contents can occur
    • Constipation
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21
Q

What gives rise to nephric structures of the embryo, portions of the suprarenal glands, the gonads, and teh genital duct system?

A

Intermediate mesoderm (nephrotome)

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22
Q

What part of the urogenital ridge gives rise to the urinary system? Which part gives rise to the genital system

A
  • Nephrogenic cord gives rise to the urinary system
  • Gonadal ridge gives rise to the genital system
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23
Q

What are the three sets of nephric systems developing from the nephrogenic cord?

A
  • Pronephroi: rudimentary and nonfunctional
  • Mesonephroi: functions briefly during early fetal period
  • Metanephroi: forms permanent kidneys
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24
Q

What structures form in the male and female from the mesonephric tubules?

A
  • Males: Efferent ductules of testis
    • Paradidymis
  • Females: Epoophoron
    • Paroophoron
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25
Q

What structures in the male and female form from the mesonephric duct?

A
  • Males: Appendix of epididymis
    • Duct of epididymis
    • Ductus deferens
    • Ureter, pelvis, calices, and collecting tubules
    • Ejaculatory duct and seminal gland
  • Females: Appendix vesiculosa
    • Duct of epoophoron
    • Longitudinal duct; Gartner duct
    • Ureter, pelvis, calices, and collecting tubule
26
Q

Renal agenesis

  • What is it?
  • What causes it?
A
  • Failure of kidney development
  • Caused by failure of ureteric buds to develop or primordia of ureters to degenerate
27
Q

Unilateral renal agenesis

  • What sex does it occur most commonly in?
  • Which kidney is most often affected?
  • Symptoms
A
  • More common in males than females
  • Left kidney
  • Often asymptomatic due to right kidney compensating and hypertrophying.
    • Suspected in infants with single umbilical artery
28
Q

Bilateral renal agenesis

Symptoms

A
  • Oligohydramnios
  • Incompatible with postnatal life
  • Severe pulmonary hypoplasia
29
Q

Ectopic kidneys

  • What is it?
  • What causes it?
A
  • One or both kidneys in abnormal position
    • Most often in pelvis
  • Can be caused by malrotation of kidneys
    • Pelvic kidneys caused by failure of kidney to ascend
30
Q

Discoid (“pancake”) kidney

What is it?

A

Pelvic kidneys that fuse due to being too close to each other

31
Q

Horseshoe kidney

  • What is it?
  • What causes it?
  • Where is it located?
  • Symptoms
A
  • Two kidneys fuse to form U-shaped horseshoe kidney that crosses over anterior side of aorta
  • Caused by fusion of inferior poles of two metanephroi during ascent
  • Becomes caught under IMA and does not ascend to normal site
  • Usually asymptomatic unless urinary flow is impeded. Then shows signs of obstruction and/or infection
32
Q

Autosomal recessive polycystic kidney disease

  • What is it?
  • What causes it?
  • Symptoms
A
  • Kidneys contain many small cysts
  • Caused by autosomal recessive gene
  • Results in renal failure early in life
    • Often die shortly after birth unless dialysis and kidney transplant is performed
33
Q

Autosomal dominant polycystic disease

  • What is it?
  • What causes it?
  • Symptoms
A
  • Cysts arising from all regions of nephrons
  • Caused by autosomal dominant gene
  • Renal failure usually occurs in adults.
    • Associated with cysts forming in kidneys as well as ductal epithelia in liver, pancreas, testis, and ovary
34
Q

Duplicated ureter

  • What is it?
  • What causes it?
  • Symptoms
A
  • Duplication of abdominal part of ureter with fused caudal end
  • Caused by premature bifurcation of ureteric bud before it reaches substance of metanephric blastema
  • Usually asymptomatic. Urine reflux from one branch into the other can cause urine stagnation which can lead to infections
35
Q

Ectopic ureter

  • What is it?
  • Where does it usually open in males? In females?
  • Symptoms
A
  • When a ureter does not enter the urinary bladder (not incorporated into the trigone)
    • In males, usually open into neck of bladder or prostatic part of urethra. Also possible in ductus deferens, prostatic utricle, or seminal gland
    • In females, usually into neck of bladder, urethra, vagina, or vestibule of vagina.
  • Symptoms include incontinence (urine dribbling from urethra in males and urethra and/or vagina in females)
    • Can predispose patient to UTI
36
Q

The vesical part of the urogenital sinus forms what in the adult?

A

Urinary bladder

37
Q

The pelvic part of the urogenital sinus forms what in the adult?

A

Urethra in neck of bladder, prostatic part of urethra in males, entire urethra in females

38
Q

A patent allantois can cause what 4 conditions?

A
  • Urachal fistula: Urine drains from umbilical orifice and increases risk of UTI
  • Umbilical urachal sinus: Can become infected and form abcesses
  • Vesicourachal diverticulum: increases risk of UTI
  • Urachal cyst: Usually asymptomatic unless it becomes infected. Can be life threatening if patent urachus ruptures into peritoneal cavity.
39
Q

Exstrophy of bladder

  • What is it?
  • What causes it?
    • Correlations
  • Symptoms
A
  • Exposure or protrusion of muscosal surface of posterior wall of bladder
  • Caused by incomplete median closure of inferior part of anterior abdominal wall.
    • Most often found in males
    • Associated with epispadius (urethra on dorsum of penis)
    • Associated with wide separation of pubic bones
  • Urine dribbles intermittently form everted bladder
40
Q

Congenital adrenal hyperplasia (CAH)

  • What is it?
  • What causes it?
  • Symptoms
A
  • Abnormal increase in cells of suprarenal cortex
    • Causes excessive androgen production
  • Caused by autosomal recessive disorder
    • Deficiency in biosynthesis of steroid hormones cause increase in release of adrenocorticotropin from pituitary gland
  • Causes maculinizaiton of external genitalia in females.
  • Both sexes can experience rapid growth and accelerated skeletal maturation
41
Q

Hypertrophic pyloric stenosis

  • What is it?
  • What causes it?
  • Symptoms
A
  • Lengthening and thickening of pyloric channel
  • Caused by hypertrophy and hyperplasia of pylorus
  • Symptoms:
    • Dilated stomach due to obstruction
    • Non-bilious, projectile vomiting. Hungry after vomiting (hungry vomiter)
    • Signs of dehydration (depressed fontanelles, dry mucous membranes, decreased tearing, poor skin turgor and lethargy)
42
Q

Intestinal atersia

  • What is it?
  • What causes it?
A
  • Closure of intestines
  • Caused by:
    • Complication of volvulus
    • Internal hernia
    • Inversion of intestine in on itself
    • Strangulation from omphalocele/gastroschisis
    • Healed intrauterine intestinal perforation
43
Q

Imperforate anus

  • What is it?
  • What causes it?
A
  • Absence of anal orifice and fistula with:
    • Perineum in males
    • Urinary tract in males
    • Vagina in females
  • Caused by failure of urorectal septum to completely separate allantois and hindgut
44
Q

Wilms Tumor

  • What is it?
  • What causes it?
  • Symptoms
A
  • Renal tumor of children (nephroblastoma)
    • Rapid growth and early metastasis
  • Caused by failure of metanephric tissue to differentiate into normal kidney tissue
  • Symptoms:
    • Asymptomatic abdominal mass
    • Blood in urine
    • Malaise, anemia, weight loss, hypertension
    • Enlarged scrotal veins due to occluded left renal vein
45
Q

What is hypospadia?

What is epispadia?

A
  • Hypospadia: urethral opening on ventral side of penis
    • Caused by failure of urethra to completely cannulate
  • Epispadia: urethral opening on dorsum of penis
46
Q

Cryptorchidism

  • What is it?
  • Symptoms
A
  • Undescended testes (unilaterally or bilaterally)
  • Testes will usually descend by end of 1st year.
    • They will not develop properly within or just aoutside abdominal cavity due to high body heat.
47
Q

Ectopic Testes

  • What is it?
  • Places they are found?
A
  • Testes that do not descend into scrotum after descending through inguinal canal
  • Common alternative locations:
    • Superficial: External to external oblique m
    • Femoral: Proximal portion of medial or anterior thigh
    • Prepenile: Dorsal to penis
    • Transverse: Opposite of scrotum
    • Perineal: in perineum
48
Q

Hydrocele

  • What is it?
  • What causes it?
  • Types and associations
A
  • Peritoneal fluid from abdominal cavity in scrotum
  • Caused by patent processus vaginalis
  • Types:
    • Scrotal: associated with undescended testes
    • Spermatic cord
49
Q

What is the female equivalent of prostatic utricle in male?

A

Uterovaginal primordium

50
Q

What is the male equivalent of the epoophoron in the female?

A

Efferent ductules and duct of epididymis

51
Q

What is the male equivalent of the Gartner’s duct in the female?

A

Ductus deferens and ejaculatory duct in males

52
Q

What causes development of a double uterus with a double vagina?

A

Complete lack of fusion of caudal paramesonephric ducts and sinovaginal bulbs

53
Q
  • What is a bicornuate uterus?
  • What causes it?
A
  • 2 uterine horns entering common vagina
  • Caused by partial fusion of paramesonephric ducts
54
Q

Vaginal atresia

  • What is it?
  • What causes it?
A
  • Blocked vaginal lumen
  • Caused by failure of vaginal plate to canalize and form a lumen
55
Q

Aromatase deficiency

  • What causes it?
  • Symptoms
A
  • Defect in aromatase enzyme
  • Increase in androgens due to lack of conversion to estrogens
    • Causes virilization of mother and infant female
56
Q

Ovotesticular DSD

  • What is it?
  • What genotype does it most commonly occur in?
  • What type of phenotype?
A
  • Both ovaries and testes present (or variety of two) (“true hermaphroditism”)
    • Mullerian and Wolffian structures present
  • Most commonly found in 46 XX genotype
  • Variable phenotype
57
Q

46 XX SRY+

  • What is it?
  • What phenotype is displayed?
  • Symptoms
A
  • Translocated SRY gene to X chromosome
  • Male phenotype
  • Higher rate of infertility and abnormal hormonal levels
58
Q

Gonadal dysgenesis

  • What is it?
  • What genotype is most commonly associated w/this?
  • What phenotype is displayed?
  • Symptoms
A
  • Underdeveloped and dysfunctioning gonads (streak gonads)
  • 46 XY
  • Phenotypic female - internal and external
  • Symptoms:
    • Delayed puberty
    • Gonadal failure
59
Q

5 alpha reductase deficiency

  • What does it cause?
  • What phenotype is displayed?
A
  • Causes no conversion of testosterone to DHT
  • Minimal external genital male development
    • At puberty, increased muscle mass, increase phallic size, onset of erections (guevedoce)
60
Q

Androgen insensitivity syndrome

  • What is it?
  • What causes it?
  • Symptoms
A
  • Complete or partial androgen receptor responsiveness
  • Caused by defect of androgen receptor
  • Symptoms:
    • Phenotypically female
    • No uterus and small vaginal pouch
    • Intra-abdominal testes
    • Little to no axillary or pubic hair
    • Normal serum testosterone levels for male
61
Q

Turner Syndrome

  • What causes it?
  • Symptoms
A
  • Complete or partial absence of second sex chromosome
  • Symptoms:
    • Short stature
    • Ovarian failure
    • Delayed puberty
    • Absence of puberty
    • Infertility
62
Q

Klinefelter Syndrome

  • What causes it?
  • Symptoms
A
  • Caused by extra X chromosome (47 XXY, 48 XXXY)
  • Symptoms:
    • Gynecomastia (enlarged breast on male)
    • Absence of motile sperm
    • Testicular failure
    • Small firm testes
    • Poor muscle development
    • Fat distribution more feminine than masculine
    • Normal amounts of pubic and axillary hair, but sparse facial hair
    • Taller than normal

Embryology (2 decks)

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