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Embryology > GI, GU, and birth defects > Flashcards

GI, GU, and birth defects Flashcards

0
Q

What are the most common kinds of diaphragmatic defects? Describe (4 things: Most common kind, most common cause of what? Secondary effects, common laterality?)

A
  • Posterolateral diaphragmatic defects-
    1. ) Congenital diaphragmatic hernia
    2. ) Most common cause of lung hypoplasia (secondary to diaphragmatic defect)
    3. ) Polyhydramnios
    4. ) More prevalent on the left side

Polyhydramniosoccurs when there is a high amount of amniotic fluid (2000 mL in late pregnancy). Polyhydramnios may be associated with the inability of the fetus to swallow due to tracheoesophageal fistula,esophagealatresia, oranencephaly.Polyhydramnios is commonly associated with maternal diabetes.

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1
Q

Describe Sacrococcygeal Teratoma (4 things)

  1. ) Embryologic origin/structure
  2. ) Layers involved?
  3. ) Male/female?
  4. ) Prognosis?
A
  1. ) Primitive streak origin
  2. ) May contain derivatives of all 3 germ layers
  3. ) 80% female
  4. ) Usually benign

Sacrococcygeal teratoma (ST) is a tumor that arises from remnants of the primitive streak, which normally degenerates and disappears. ST is derived from pluripotent cells of the primitive streak and often contains various types of tissue (e.g., bone, nerve, hair). ST occurs more commonly in female infants and usually becomes malignant during infancy (must be removed by age 6 months). Caudal dysplasia (sirenomelia)refers to a constellation of syndromes ranging from minor lesions of lower vertebrae to complete fusion of the lower limbs. Caudal dysplasia is caused by abnormal gastrulation whereby the migration of mesoderm is disturbed. Spina bifida occurs when the bony vertebral arches fail to form properly, thereby creating a vertebral defect, usually in the lumbosacral region. See Chapter 4, V.E.

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2
Q

What is the most common cranio-facial anomaly?

A

Cleft lip and palate.

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3
Q
  1. ) What is the cause of first arch syndrome?

2. ) What are the two manifestations?

A
  1. ) It is the result of insufficient migration of neural crest cells into the first arch during the FOURTH WEEK.
  2. )
    a. ) Treacher Collins Syndrome: Autosomal dominant zygomatic facial bone underdevelopment.
    b. ) Pierre Robin Syndrome: Hypoplasia of mandible, cleft palate, defect of the eye and ear. Usually results in a small mandible
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4
Q

Describe DiGeorge Syndrome

  1. ) What are its manifestations?
  2. ) What causes it?
  3. ) What arch can be affected?
  4. ) Which chromosome is deficient?
A
  1. ) Thymic and parathyroid hypoplasia with defects in cardiac outflow tracts
  2. ) Failure of interaction between pharyngeal endoderm and neural crest cells
  3. ) First arch defects
  4. ) Minus chromosome #22
    p. 113 BWARB
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5
Q

How many versions of cleft palate and lip are possible?

A

Eight

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6
Q
  1. ) What is the most common anomaly of the lower respiratory tract?
  2. ) What happens to the esophagus?
A
  1. ) Tracheoesophageal Fistula (TEF): Laryngeal/tracheal tube does not entirely separate (fistula), i.e. abnormal connectivity between the trachea and esophagus. Leads to respiratory infections, pneumonia, choking, etc.
  2. ) The esophagus ends in a blind tube (closing of the esophagus ending) – causing projectile vomiting.
    * Check different versions from lecture*
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7
Q

Describe respiratory stress syndrome, aka ________, cause?

A

aka Hyaline membrane disease: Major cause is insufficiency of surfactant production.

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8
Q

Describe esophageal atresia

  1. ) How is it linked to TEF?
  2. ) Symptoms (2)?
  3. ) Any born premature?
A
  1. ) Linked to TEF in 85% of cases
  2. ) Excessive drooling, coughing or regurgitation ofter feeding.
  3. ) 1/3 born prematurely
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9
Q

Describe cause and symptoms of annular pancreas

A

Pancreas wraps and fuses around the duodenum during embryological development. Pain, bowel obstruction, and bloating.

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10
Q
  1. ) Describe OMPHALOCELE
  2. ) What is the origin of the defective epithelial tissue?
  3. ) What muscle is largely absent in this defect?
A
  1. ) Abdominal organs develop and grow in a sac outside of the abdominal cavity due to defect in the abdominal wall.
  2. ) Epithelium is of umbilical and amniotic sac origin
  3. ) Rectus abdominus
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11
Q

Describe Umbilical Hernia

  1. ) Manifestation
  2. ) Symptoms
A
  1. ) Intestines pour through opening of an imperfectly closed umbilicus
  2. ) Greater omentum and part of intestines herniate
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12
Q

Describe AMELIA (possible causes?, when?)

A

Total absence of limbs: Possibly caused by genetics, environmental factors, multifactorial, or by cutoff of blood supply (perhaps by umbilical cord). Usually manifests around the 4th week of development.

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13
Q

Describe polydactyly:

  1. ) Pattern of inheritance
  2. ) Common locations (foot, hand)
A
  1. ) Dominant inheritance

2. ) If in hand, more common MEDIALLY OF LATERALLY rather than centrally. If in FOOT –> LATERAL

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14
Q

Describe SYNDACTYLY

  1. ) Types?
  2. ) Locations?
  3. ) Inheritance
A

More common than polydactyly:

  1. ) Cutaneous, osseous
  2. ) Between digits 3-4 or 2-3.
  3. ) Simple dominant or recessive inheritance
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15
Q
  1. ) Describe spina bifida (i.e. principle defect)

2. ) Variants (3)

A

1.) Defect in fusion of vertebral arches (SPs don’t form)

2.)
a.) SB cystica: That causes spinal cord or meninges to bulge through defect (SB cystica).
b.) SB w/ meningocele = meninges and CSF in sac
c.) SB w/ meningomyelocele = meninges, CSF, and spinal cord in sac
Check diagram of different variants
Compression NERVE ROOT BELOW THE LESION!

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16
Q

Neural tube defects:

  1. ) What prevents?
  2. ) What increases instances of NTDs?
A
  1. ) Folic acid

2. ) Valproic acid, hypothermia, and elevated levels of Vitamin A

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17
Q

Describe Excencephaly and Meroencephaly:

  1. ) What is it/What causes it?
  2. ) Outward manifestation?
  3. ) Prognosis?
  4. ) Cause?
A
  1. ) Failure of rostral neuropore to close and brainstem is exposed in utero.
  2. ) Forebrain primordium develops abnormally and extrudes from the cranial cavity (excencephaly) aka anencephaly.
  3. ) Typically lethal
  4. ) Multifactorial causes
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18
Q

Hydrocephalus:
1.) What is it?
2&3.) What causes it?
4.) Inheritance other causes?

A

Enlargement of head

  1. ) Imbalance in the resorption and secretion of CSF
  2. ) Congenital aqueductal stenosis
  3. ) X-linked recessive; CMV, rubella, toxoplasmosis
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19
Q

Drugs that cause birth defects (4)

A
  1. ) Thalidomide: Tranquilizer that led to Meromelia-phocomelia (seal limbs)
  2. ) Marijuana: No prob Bob.
  3. ) Cocaine: IUGR, prematurity, microcephaly, spontaneous abortion, other neurologic conditions.
  4. ) Methadone: Bad.
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20
Q

Describe Citomegalovirus:

  1. ) Prevalence?
  2. ) Symptoms/results
  3. ) Asymptomatic CMV can lead to ______
A
  1. ) Most common viral infection of the fetus. Affects 1% of new borns.
  2. ) Infections during embryonic period typically end in SPONTANEOUS ABORTION.
  3. ) SEVERE NEUROLOGICAL CONDITIONS.
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21
Q
  1. ) In the formation of the primordial gut, (_____ week)…
  2. ) the beginning of the gut is closed at its _______ end by the
  3. ) _________ membrane.
A
  1. ) 4th week
  2. ) cranial end
  3. ) Cloacal membrane
22
Q

What gives rise to the opening of the mouth (2 things; describe)?

A
  1. ) Stomodeum: Thin ECTODERMAL membrane that combines with…
  2. ) OROPHARYNGEAL membrane
23
Q

What two structures give rise to the anus?

A

Proctoderm (ectoderm), and cloacal membrane

24
Q

The _______ and _______ of the GI tract are derived from ectoderm

A

The EXTREME CRANIAL and CAUDAL ENDS of the GI tract

25
Q

What are the adult derivatives of the primordial foregut (9)?

A
  1. ) Primordial pharynx
  2. ) Lower respiratory system
  3. ) Esophagus
  4. ) Stomach
  5. ) Cranial aspect of the duodenum
  6. ) Liver
  7. ) Biliary apparatus
  8. ) Pancreas
  9. ) Omental bursa
26
Q

What are the adult derivatives of the primordial midgut (5)? What artery was it supplied by?

A
  1. ) Duodenum distal to the bile duct opening
  2. ) Cecum
  3. ) Appendix
  4. ) Ascending colon
  5. ) Right 2/3 of transverse colon
    * Supplied by SMA*
27
Q

What are the adult derivatives of the primordial hindgut (6)? Supplied by what artery?

A
  1. ) 1/3 transverse colon
  2. ) Descending/sigmoid colon
  3. ) Rectum
  4. ) Superior part of anal canal
  5. ) Urethra
  6. ) Epithelium of urinary bladder
    * Supplied by IMA*
28
Q

From which germ layer does the esophagus originate?

A

Endoderm

29
Q
  1. ) From which germ layer does the stomach originate?

2. ) How does it rotate and when?

A
  1. ) Dorsal mesogastrium?

2. ) After 6th week it ROTATES 90˚ CLOCKWISE when viewed CRANIALLY.

30
Q

From which germ layer does the omental bursa originate?

A

Dorsal mesogastrium

31
Q
  1. ) From which germ layer does the duodenum originate (2)?

2. ) Which portions of primordial gut form the duodenum (2)?

A
  1. ) a.)Splanchnic mesenchyme
    b. ) Endoderm of primordial gut

2.) Caudalmost foregut and proximal midgut

32
Q
  1. ) From which germ layer does the liver and biliary apparatus originate?
  2. ) Liver develops between which weeks?
  3. ) Bile production by which week?
A
  1. ) Hepatic diverticulum ENDODERM derived
  2. ) Weeks 5-10
  3. ) 12th week
33
Q
  1. ) What pancreatic buds form the pancreas?
  2. ) From which primordial tissue layer(s)?
  3. ) Insulin secretion by which week?
  4. ) Glucagon by which week?
A
  1. ) Dorsal and ventral pancreatic buds
  2. ) Endoderm
  3. ) Insulin by week 10
  4. ) Glucagon by week 15
34
Q
  1. ) From which germ layer does the spleen originate?

2. ) First observed by what week?

A
  1. ) Mesenchyme between layers of dorsal mesogastrium

2. ) Week 5

35
Q
  1. ) Where does fetal hematopoiesis begin?

2. ) When and where does hematopoiesis change to a different organ?

A
  1. ) Spleen

2. ) Shifts to the LIVER by WEEK 6

36
Q
  1. ) What structures are associated with the proximal umbilical cord?
  2. ) When do they begin to appear?
A
  1. ) Umbilical vein, umbilical artery, allantois, intestine, amnion (surrounding umbilical cord)
  2. ) Weeks 6-10
37
Q
  1. ) What is the CLOACA?

2. ) What forms the cloacal membrane?

A
  1. ) A chamber formed from an expanded portion of the terminal hindgut.
  2. ) Cloacal membrane = cloacal endoderm + proctodeum ectoderm
38
Q

What embryologic structures form the pectinate line (2) and how?

A
  • Junction between the following developmentally different portions of the anal canal*
    1. ) Cranial 2/3 hindgut endoderm
    2. ) Caudal 1/3 from ectoderm of proctodeum
39
Q

What is the metanephros?

A

The developmentally mature form of the embryologic kidney. The metanephros persists as the definitive adult kidney.

40
Q

What are the two main portions of the metanephros and what do they represent in the mature kidney?

A
  1. ) Metanephrenic diverticulum: Most of the excretory ducts of the kidney (ureter, renal pelvis, calyces, collecting tubules).
  2. ) Metanephrenic blastema (mesenchymal mass): Secretory portion of the kidneys (nephron - from Bowman’s capsule –> distal collecting tubule).
41
Q

The cloaca is divided into the rectum and the ______ by the ______.

A

Rectum and the UROGENITAL SINUS by the UROGENITAL SEPTUM.

42
Q

What are the 3 parts of the Urogenital sinus and what mature urinary structures do they form?

A
  1. ) Cranial vesicle part: Bladder
  2. ) Middle pelvic part: Urethra (PROSTATIC part in males, ALL in females)
  3. ) Caudal phallic part: Primordium of penis or clitoris
43
Q
  1. ) The connective tissue of the bladder is formed by the incorporation of the _______ into the wall of the bladder.
  2. ) What primordial tissue layer forms the connective tissue?
A
  1. ) Mesophrenic ducts

2. ) Epithelium of urogenital sinus ENDODERM (with some SPLANCHNIC MESODERM)

44
Q

Concerning the SUPRARENAL GLANDS, what embryologic tissue layers form the following structures:

  1. ) Cortex
  2. ) Medulla
A
  1. ) Mesenchyme from posterior abdominal wall

2. ) Neural crest cells from adjacent sympathetic ganglion

45
Q

When do the following structures appear:

  1. ) Z. Glomerulosa
  2. ) Z. Fasciculate
  3. ) Z. Reticularis
A
  1. ) Present at birth
  2. ) Present at birth
  3. ) Develops by 3 years of age
46
Q

Which three tissue layers contribute to the development of the ovaries and testes?

A
  1. ) Mesodermal epithelium from abdominal wall
  2. ) Embryonic mesenchyme
  3. ) Primordial germ cells
47
Q

Which 3 embryologic tissues/structure contribute to the formation of male and female external genitalia?

A
  1. ) Genital tubercle
  2. ) Urogenital folds
  3. ) Labioscrotal swellings
48
Q

At how many weeks does SEXUAL DIFFERENTIATION typically begin?

A

5 weeks

49
Q
  1. ) What is MIS/what does it do?

2. ) Where does it come from?

A
  1. ) Mullerian-inhibiting substance (MIS) is a glycoprotein that suppresses the development of paramesonephric (Mullerian) ducts, which form the uterus and uterine tubes. I.E. it prevents an embryo from becoming female.
  2. ) Produced by SERTOLI CELLS.
50
Q

Ovaries develop in the _____, unlike testes which occur mainly in the _____ in the absence of ______.

A
  • Develop in the CORTEX.

- Testes develop in the MEDULLA in the absence of TDF (testicular-determining factor)

51
Q

What embryologic structure gives rise to the fallus (penis) and clitoris?

A

Genital tubercle

52
Q
  1. ) When controls the descent of the testes?

2. ) When does this typically occur?

A
  1. ) Adrogens produces by fetal testes

2. ) 26 weeks

Embryology (5 decks)

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