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Repro Midterm > Embryo > Flashcards

Embryo Flashcards

1
Q

alcohol is most teratogenic during which weeks?

A

weeks 3–9

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2
Q

first indication of gastrulation in the embryo is formation of the (formed through invagination of the epiblast):

A

primitive streak

week 3

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3
Q

what week do we see development of the notochord?

what week is differentiation of the three primary germ layers and the derivative of each layer?

A

both week 3

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4
Q

conjoined (siamese) twins is due to incomplete division of:

A

hypoblast (inner cell mass) or 2º fusion

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5
Q

remnants of the primitive streak, containing derivatives from all three germ layers, can persist as:

A

sacrococcygeal teratoma

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6
Q
  • associated with fetal hydrops; can be rapidly fatal in utero or can lead to polyhydramnios and premature delivery
  • the high-output cardiac failure is related to “vascular steal” from the high blood flow through the tumor
A

sacrococcygeal teratoma

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7
Q

“VACTERL” – mnemonic for mesodermal defects:

A 
Vertebral defects
Anal atresia
Cardiac defects
Tracheo-Esophageal fistula
Renal defects
Limb defects (bone and muscle)
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8
Q

caudal dysplasia (e.g., sirenomelia) is due to a defect in which germ layer?

A

mesoderm

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9
Q

organ system that begins its morphological development first:

A

CNS

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10
Q

principal inductor in neural tube formation:

A

notochord

-induces overlying ectoderm to form neural plate -> neural tube

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11
Q
  • AR
  • global reduction or absence of pigment in skin, hair and eyes
  • eye conditions: nystagmus, strabismus, light sensitivity
A

albinism

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12
Q
  • autoimmune disorder
  • loss of melanocytes
  • possible environmental effects
  • may be AD inheritance with variable expression and incomplete penetrance
A

vitligo

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13
Q

which wave is at fault in anencephaly?

A

wave 2

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14
Q

spina bifida (myelo/meningocele) is a failure at the junction of which two waves?

A

waves 1 and 5

represents the junction of 1º and 2º neurulation

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15
Q

cranial neuropore closes at day:

caudal neuropore closes at day:

A

cranial neuropore closes at day 24
(failure to close -> anencephaly)

caudal neuropore closes at day 27
(failure to close -> spina bifida)

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16
Q

somites may differentiate into: (4)

A

bone, cartilage, muscle, dermis of skin

all except the epidermis!

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17
Q

intermediate mesoderm differentiates into: (2)

A

kidneys and gonads

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18
Q

the chordamesoderm differentiates into the:

A

notochord

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19
Q

notochord differentiates into the:

A

nucleus pulposus

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20
Q

erector spinae muscles develop from the:

A

epimere

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21
Q

intramembranous ossification typically occurs where?

A

mostly in cranial vault

everywhere else is usually endochondral

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22
Q
  • deficiency in type 1 collagen
  • multiple variants
  • characterized by extreme bone fragility and spontaneous fractures
A

osteogenesis imperfecta

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23
Q
  • most prevalent form of dwarfism
  • mutation in FGF-23
  • pathologic changes at epiphyseal plates
  • zones of proliferation and hypertrophy are narrow and disorganized (endochondral formation)
A

achondroplasia

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24
Q

_____________ -> somites -> ___________ -> vertebrae

A

paraxial mesoderm -> somites -> sclerotomes -> vertebrae

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25
Q

the connective tissue (skeletal and vascular) of the limb arises from the:

A

lateral plate mesoderm

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26
Q

initiation of limb development begins with activation of the:

A

lateral plate mesoderm

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27
Q

outgrowth of the limb bud is stimulated by the:

A

apical ectodermal ridge (AER)

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28
Q
  • produced at apical ectodermal ridge

- stimulates mitosis of underlying mesoderm, providing for lengthening of limbs

A

FGF gene

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29
Q
  • produced at base of limbs in zone of polarizing activity
  • involved in patterning along anterior-posterior axis
  • involved in CNS development; mutation can cause holoprosencephaly
A

sonic hedgehog gene

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30
Q

four drugs that cause reduction defects (part or all of limb is missing):

A
  • thalidomide
  • dimethadione
  • aspirin
  • retinoic acid
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31
Q
  • MC limb abnormality
  • webbed fingers or toes
  • failure of programmed apoptosis in digital ray
A

syndactyly

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32
Q

A 4‐day‐old boy is brought into the pediatric clinic because of breathing difficulties and poor feeding. He coughs, chokes and spits up milk very soon after beginning to nurse. Physical examination and subsequent radiographs reveal the presence of the most common type of tracheoesophageal fistula. This defect results from:

A

B. failure of tracheoesophageal septum to fuse

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33
Q

development of lungs and laryngeotracheal (respiratory) diverticulum begins in what week?

A

week 4

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34
Q

A 27‐week‐oLd male fetus is delivered prematurely and subsequently dies of respiratory distress syndrome. What pathologic process most likely lead to the infant’s demise?

A

C. inadequate pulmonary surfactant

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35
Q

A 6 day old boy presents with a history of complete loss of breath at times and occasional cyanosis. If the baby is held in an upright position, his breathing improves. Physical examination reveals an usually flat stomach when the baby is lying down, and auscultation demonstrates no breath sounds on the left side of the thorax. What is the most likely diagnosis?

A. Unilateral pulmonary agenesis
B. Esophageal hiatal hernia
C. Respiratory distress syndrome
D. Congenital diaphragmatic hernia
E. Congenital neonatal emphysema
A

D. congenital diaphragmatic hernia

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36
Q

sympathetic innervation of FOREGUT –

  • preganglionic cell bodies:
  • splanchnic nerve:
  • preaortic ganglion:
  • postganglionic axons follow:
A

sympathetic innervation of FOREGUT –

  • preganglionic cell bodies: T5 – T9
  • splanchnic nerve: greater splanchnic n.
  • preaortic ganglion: celiac
  • postganglionic axons follow: celiac a.
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37
Q

sympathetic innervation of MIDGUT –

  • preganglionic cell bodies:
  • splanchnic nerve:
  • preaortic ganglion:
  • postganglionic axons follow:
A

sympathetic innervation of MIDGUT –

  • preganglionic cell bodies: T9 – T12
  • splanchnic nerve: lesser splanchnic n.
  • preaortic ganglion: superior mesenteric
  • postganglionic axons follow: SMA
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38
Q

sympathetic innervation of HINDGUT –

  • preganglionic cell bodies:
  • splanchnic nerve:
  • preaortic ganglion:
  • postganglionic axons follow:
A

sympathetic innervation of HINDGUT –

  • preganglionic cell bodies: T12 – L2
  • splanchnic nerve: least splanchnic n.
  • preaortic ganglion: inferior mesenteric
  • postganglionic axons follow: IMA
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39
Q

parasympathetic innervation of FOREGUT & MIDGUT –

  • preganglionic cell bodies:
  • nerve:
  • location of ganglion:
A

parasympathetic innervation of FOREGUT & MIDGUT –

  • preganglionic cell bodies: brainstem
  • nerve: vagus n. (CN X)
  • location of ganglion: organ walls
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40
Q

parasympathetic innervation of HINDGUT –

  • preganglionic cell bodies:
  • nerve:
  • location of ganglion:
A

parasympathetic innervation of HINDGUT –

  • preganglionic cell bodies: S2 – S4
  • nerve: pelvic splanchnic nerves
  • location of ganglion: organ walls
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41
Q

A woman comes to your office for a standard prenatal visit. Examination reveals that her uterus is considerably larger than expected for her estimated gestational age. Ultrasound examination reveals that she has polyhydramnios. Which of the following congenital defects would most likely be associated with this abnormality?

A. bilateral renal agenesis
B. esophageal atresia
C. pulmonary hypoplasia
D. ureteral obstruction
E. urachal fistula
A

B. esophageal atresia

polyhydramnios – baby unable to take in amniotic fluid

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42
Q
  • nonbilious vomiting in newborn

- “olive-sized mass” in epigastric region

A

pyloric stenosis

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43
Q
  • bilious vomiting in newborn

think. ..

A

duodenal atresia

or annular pancreas

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44
Q
  • midgut loop fails to return to abdominal cavity

- sealed by peritoneum

A

omphalocele

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45
Q
  • extrusion of abdominal contents through abdominal folds
  • failure of anterior wall musculature to close during folding
  • NOT covered by membrane
A

gastroschisis

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46
Q

A 7 month old baby presents with swollen umbilicus that has failed to heal normally. The umbilicus drains secretions, and occasionally fecal material passes through the umbilicus. What is the most likely diagnosis?

A. duodenal atresia
B. esophageal stenosis
C. gastroschisis
D. ileal diverticulum
E. omphalocele
A

D. ileal (Meckels) diverticulum

  • “rule of 2’s”
  • remnant of vitelline duct
  • asymptomatic
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47
Q

A newborn boy does not pass meconium until 48 hours after his birth. Several weeks later his mother complains that he has not been passing stool regularly. Diagnostic exam reveals increased internal anal sphincter pressure on rectal distension with a balloon. The patient’s disorder may be attributed to:

A

B. failure of neural crest cells to migrate into the colonic wall (Hirschprungs)

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48
Q

failure of Rathke folds to develop, resulting in a:

A

rectourethral fistula

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49
Q

A mother brings her 4‐year‐old daughter to the physician complaining that despite being toilet‐trained, the child seems to regularly wet herself. An intravenous pyelogram shows complete duplication of the ureter on the right side. Although one ureter opens normally into the bladder, the other opens into the vagina. This congenital anomaly is caused by:

A

B. early complete division of the ureteric bud

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50
Q

horseshoe kidney usually found inferior to which vessel?

A

inferior mesenteric artery (IMA)

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51
Q

While examining a newborn baby, a physician notes that urine is draining from the umbilicus. Contrast dye is introduced into the bladder through the urethra, and it is confirmed radiologically that dye is passing to the umbilicus. Which of the following embryonic structures has abnormally been retained in this patient?

A

A. Allantoic duct (urachus -> median umbilical ligament) – will see urine out of umbilicus

aside: feces through umbilicus, think ileal (Meckels) diverticulum.

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52
Q

primitive vertebrate cardiovascular plan present by which week?

A

week 4

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53
Q

truncus arteriosus becomes:

A

aorta, pulmonary trunk

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54
Q

bulbus cordis becomes:

A

smooth part of R ventricle (conus cordis)

smooth part of L ventricle (aortic vestibule)

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55
Q

primitive ventricle becomes:

A

trabeculated part of R and L ventricles

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56
Q

primitive atrium becomes:

A

trabeculated part of R and L atria

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57
Q

sinus venosus becomes:

A

smooth part of R atrium (sinus venarum)
coronary sinus *
oblique vein of L atrium

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58
Q
  • MC positional abnormality

- folding of heart takes place in opposite direction

A

dextrocardia

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59
Q
  • MC congenital heart defect
  • membranous 90% of the time
  • large defects can result in L -> R shunting, cyanosis and death
  • associated with fetal alcohol syndrome, Down syndrome, trisomies 13 and 18
A

ventricular septal defects

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60
Q

A newborn baby is observed to be cyanotic immediately after birth. Diagnostic studies, including ultrasound, reveal that the baby has persistent truncus arteriosus. Which of the following additional defects is this baby most likely to have?

A

B. Membranous ventricular septal defect

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61
Q

tetralogy of fallot:

A
  • overriding aorta
  • ventricular septal defect
  • pulmonary stenosis
  • right ventricular hypertrophy
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62
Q

a patent ductus arteriosus connects which two vessels?

A

aorta pulmonary artery

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63
Q

list a few necessary physiologic changes which allow the sperm to penetrate the egg (sperm capacitation): (3)

A
  • removal of some epididymal and seminal glycoproteins
  • increase in membrane permeability to Ca2+
  • Ca2+ influx maximizes cAMP -> increases sperm motility
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64
Q

what are the three main events in fertilization?

A
  1. sperm binding to ZP3
  2. acrosome reaction
  3. sperm-egg fusion
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65
Q

explain the acrosome reaction.
which enzymes are released?
what do the enzymes do?

A

sperm binds ZP3 receptor and allows for the acrosome reaction or the release of enzymes (neuramidase and acrosin) from the acrosomal space of the sperm to break down the zona pellucida

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66
Q

what happens after the first sperm fertilizes the egg?

A

proteases released from the cortical granules present in the egg remove oligosaccharides from ZP3 and partially cleave ZP2

prevents polyspermy (results in nonviable zygotes)

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67
Q

a mutation in lzumo (immunoglobulin superfamily) creates the inability for the sperm to:

A

fuse to the egg and undergo this acrosome reaction

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68
Q

explain both the fast and slow components of the cortical reaction.

A

fast component: change in resting potential of oocyte plasma membrane prevents further binding of sperm (i.e., “shocks” sperm to get them to let go)

slow component: release of cortical granules containing enzymes (into PVS) that destroy sperm receptors (ZP3 Rs)

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69
Q

once the zygote undergoes cleavage into 8 cells, it’s called:

A

morula

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70
Q

the blastocyst hatches from it szona pellucida at day…

A

day 6 or 7

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71
Q

implantation of the blastocyst is mediated by:

A

penetrating trophoblastic cells

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72
Q

day 6-7: blastocyst implantation –

what type of cells invade part of the myometrium (interstitial invasion)?

A

differentiated syncytiotrophoblastic cells

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73
Q

endovascular invasion initiates what?

A

endovascular invasion initiates the primitive uteroplacental circulation and represents the starting point of the future intervillous space

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74
Q

trophoblast infiltration gives rise to:

A

trophoblast infiltration gives rise to lacunae (pools of maternal blood)

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75
Q

once implanted the syncytiotrophoblast begins to secrete:

A

hCG
(secreted into maternal lacunae)
(the secretion of estrogens and progesterone by the corpus luteum is now under the control of hCG)

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76
Q

how does the decidua provide an immune-protective environment for the development of the embryo? (3)

A
  • production of immunosuppressive substances to inhibit the activation of NK cells at the implantation site
  • secretion of IL-2 to prevent maternal tissue rejection of the implanting embryo
  • syncytiotrophoblasts do not express MHC class II, therefore cannot present Ags to maternal CD4+ T cells
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77
Q

at the end of the second week, cytotrophoblastic cells proliferate and extend into the syncytiotrophoblast mass, forming th:

A

primary villi

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78
Q

early in the third week, the extraembryonic mesoderm extends into the primary vili, forming the:

A

secondary villi
(in cross section, a secondary villus is formed by a core of extraembryonic mesoderm surrounded by a middle cytotrophoblast layer and an outer layer of syncytiotrophoblast)

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79
Q

cells of the XE mesoderm differentiate into capillary and blood cells, forming the:

A

tertiary villi

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80
Q

what is the main difference between the secondary villi and the tertiary villi?

A

the presence of capillaries in tertiary villi

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81
Q

which maternal Abs can pass through the placenta?

A

IgG

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82
Q

if the fetus is Rh(+) and the mother is Rh(–), what can happen in subsequent pregnancy?

A

Abs to D Ag (IgG) cross the placenta and cause hemolysis of fetal RBCs

Rx Rhogam

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83
Q

the portion underlying the implantation site and forms the maternal part of the placenta:

A

decidua basalis

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84
Q

TQ

what are the two components of the placenta?

A
  • decidua basalis

- chorion frondosum

85
Q

list the components of the placental barrier (4)

A

syncytiotrophoblast - 1
cytotrophoblast -2
extraembryonic mesenchyme - 3
fetal endothelium - 4

86
Q

placental abruption (hemorrhage into the decidua basalis) leads to:

A

premature placental separation and bleeding, which impairs oxygenation of the fetus

87
Q

placenta previa:

A

implantation of the placenta over the cervical os

88
Q

implantation of the placenta through the serosa and into the surrounding tissues, such as the bladder:

A

placenta percerta

89
Q
  • the contractions of the uterine muscles are not strong enough and postpartum bleeding occurs
  • predisposing factors include: abnormal labor, substantial enlargement of the uterus, or uterine fibroids (leiomyomas)
A

uterine atony

90
Q
  • sign of placental aging

- risk factor = smoking

A

placental calcification

91
Q

malignant gestational trophoblastic disease (GTD) is diagnosed on the basis of elevated tumor markers, primarily:

A

ß-hCG

92
Q
  • 46XX (>90%), paternal origin
  • 46XY, paternal origin
  • NO fetal tissue*
  • extensive hydropic villi (grapelike clusters are diagnostic characteristic)
  • extensive trophoblastic hyperplasia with significant atypia
A

complete mole

93
Q
  • triploidy (>90%) or tetraploidy
  • PRESENCE of fetal tissue*
  • limited and focal hydropic villi
  • focal trophoblastic hyperplasia with mild atypia
A

partial mole

94
Q
  • invasion into myometrium of edematous chorionic villi covered with layers of proliferative trophoblastic cells
  • ß-hCG moderately elevated
A

invasive moles

95
Q
  • malignancy of trophoblastic tissue (cytotrophoblasts, syncytiotrophoblasts)
  • NO chorionic villi*
  • presents with abnormally high ß-hCG, shortness of breath, hemoptysis
  • hematogenous spread to lungs
  • very responsive to chemotherapy
A

choriocarcinoma

96
Q

1º oocytes are held in:

A

prophase I (until ovulation)

97
Q

2º oocytes are held in:

A

metaphase II (until fertilization)

98
Q

postmenopausal labs –

  • estrogen:
  • GnRH:
  • FSH:
  • LH:
A

postmenopausal labs –

  • estrogen: decreased
  • GnRH: increased
  • FSH: marked increase
  • LH: increase
99
Q

3 phases of the ovarian cycle:

A
  1. follicular (days 1–14)
  2. ovulation
  3. luteal (days 15–28)
100
Q
  • growth of the dominant follicle
  • typically lasts 10-14 days
  • duration of this phase is variable due to variable length of menstruation

which phase?

A

follicular phase

101
Q

during the ovulation phase, the oocyte ruptures out of the:

A

Graafian follicle

occurs mid-cycle at day 14

102
Q
  • corpus luteum secretes progesterone and estrogen to accommodate potential gestation
  • phase is relatively constant, lasting 14 days

which phase?

A

luteal phase

103
Q
  • 1º oocyte surrounded by squamous epithelium

- BEFORE puberty; inactive follicle

A
  1. primordial follicle
104
Q
  • single layer of cuboidal follicular epithelium

- zona pellucida (barrier between oocte and follicular cells developing in periphery) begins to form

A
  1. early primary (uni-layered) follicle
105
Q
  • several layers of cuboidal follicular epithelial cells

- zona pellucida forms glycoprotein coat around the oocyte

A
  1. late primary (multi-layered) follicle
106
Q
  • follicular (aka granulosa) cells continue to proliferate -> stratum granulosum
  • ovarian stroma around the follicle differentiates into theca layer (interna and externa)
  • antrum begins to form (fluid-filled space, aka liquor folliculi, rich in hyaluronic acid)
A
  1. secondary follicle
107
Q
  • specific theca layer

- squamous cells surrounding follicular cells

A

theca interna

108
Q
  • specific theca layer

- capsule-like layer continuous with the connective tissue of the ovary

A

theca externa

109
Q
  • antrum occupies much of the space
  • oocyte displaced to one side
  • developed corona radiata (layer of follicular cells surrounding oocyte)
  • developed cumulus oophorus (pedestal of follicular cells anchoring oocyte to the wall
  • 1º oocyte nearing completion of meiosis I (not until ovulation)
A
  1. mature (Graafian) follicle
110
Q

the ovulatory phase is triggered by a surge in which hormone?

A

LH

111
Q

ovulatory phase

-blood vessels of the theca interna invade the antrum to become the:

A

corpus hemorrhagicum

112
Q

Mid-cycle pain due to ovulation
Discomfort in lower abdomen due to peritoneal irritation
– Follicle ruptures

A

Mittelschmerz

113
Q

After ovulation, the residual components of the ruptured follicle forms the:

A

Corpus Luteum

114
Q

Functions of the Corpus Luteum:

A

Synthesize and secrete steroid hormones

115
Q

if the corpus luteum is not fertilized, what does it become?

A

corpus albicans (scar)

116
Q

theca cells are stimulated by what hormone?

theca cells lack what enzyme?

A

LH

theca cells lack aromatase
they have 17a-hydroxylase

117
Q

granulosa cells are stimulated by what hormone?

granulosa cells lack what enzyme?

A

FSH

granulosa (aka follicular) cells lack 17a-hydroxylase
they have aromatase

118
Q

explain the hormonal control of the ovarian cycle.
what happens early in the follicular phase due to low levels of estrogen and progesterone (think feedback)?
what happens later in the follicular phase (think feedback)?
what happens in the luteal phase?

A

Early in follicular phase, estrogen and progesterone levels are low

119
Q

main 2 hormones of follicular phase:

A
  • FSH

- estrogen

120
Q

main hormone that stimulates ovulation:

A

LH

121
Q

main 2 hormones of luteal phase:

A
  • progesterone (mostly from corpus luteum)

- estrogen

122
Q

3 layers of the uterus:

A

endometrium – (simple columnar epith) – stratum functionalis and stratum basalis
myometrium – 3 layers of circularly arrange SM
perimetrium – simple squamous epith

123
Q
  • component of endometrium
  • proliferates and sloughs off during menstruation
  • hormone sensitive
  • cyclical changes
A

stratum functionalis

124
Q
  • component of endometrium
  • regenerates functional layer (stem cells)
  • not hormone sensitive
A

stratum basalis

125
Q

which uterine layer undergoes hypertrophy and hyperplasia during pregnancy?

A

myometrium

126
Q

blood supply to the uterus is via:

A

spiral aa.

127
Q

3 phases of menstrual cycle (uterus):

A
  1. proliferative phase (11 days)
  2. secretory phase (12 days)
  3. menstrual phase (5 days)
128
Q

main hormone secreted by corpus luteum:

what are some of its functions? (

A

progesterone (“pro-gestation”):

  • stimulation of endometrial glandular secretions and spiral artery development
  • maintenance of pregnancy
  • decrease myometrial excitability
  • inhibition of gonadotropins (LH, FSH)
  • relaxes uterine smooth muscle (prevents contractions)
  • thick cervical mucus production (inhibits sperm entry into uterus)
129
Q
  • functional layer begins to thicken
  • spinal arteries are short and deep in the endometrium
  • endometrial glands are short, straight, & empty (no glycogen)

which phase of the menstrual cycle is described?

A

proliferative phase

130
Q

-functional layer very thick
-spiral arteries are long and growing
superficially in the endometrium
-endometrial glands are tortuous and are filled with glycogen-rich secretory products

which phase of the menstrual cycle is described?

A

secretory phase

131
Q

-initiated by regression of the Corpus Luteum because no fertilization occurred

A

menstrual phase

132
Q

explain the pathophysiology of dysmenorrhea (“menstrual cramps”).

A

Prostaglandins (PGE2, PGF2a) released from endometrial cells

133
Q
  • During pregnancy, the pituitary greatly increases in size due production of FSH, LH, and prolactin BUT…
  • Blood supply does not increase with enlarging gland
  • Post-partum loss of blood
A

Sheehan’s syndrome

134
Q
  • Hypertension (> 140/90) + Proteinuria (> 300mg/24 hr)
  • +/- Edema
  • After the 20th week of gestation up to 6 weeks postpartum
  • Severe ->
A

Preecclampsia

135
Q

C.R. is a 19-year old nulligravida who present for treatment of chronic pelvic pain. She reached menarche at age 13 and had the onset of severe dysmenorrhea at age 15. She was started on cyclical combined oral contraceptives by her pediatrician as a treatment for her dysmenorrhea. However, the OCPs alleviated little pain and her dysmenorrhea worsened. She now experiences pelvic pain throughout the month and rates her pain as 4 to 6 on a scale out of 10 and 10 out of 10 during menses. She also complains of pain with defecation around the time of menses. Additionally, she became sexually active 6 months ago and experiences severe discomfort with intercourse. C.R. has no history of STI’s. She has no urinary urgency, dysuria, nocturia, diarrhea, or constipation. Her physical examination is normal except for mild uterine and adnexal tenderness.

A

Endometriosis

• Defined as having non-neoplastic endometrial glands and/or stroma outside of the endometrial cavity
– Ovary = most common site
– Pelvis
– Peritoneum
• Classic Associations
– “Chocolate Cysts” (aka Endometrioma)–blood-filled lesion in the ovary
– “Gun powder” nodules
• Symptoms typically based on site affected
– Uterine ligaments

136
Q

A 21 year old obese female (BMI 32) presents to her gynecologist for evaluation of irregular menses since menarche. She states she has 1 period every 6 months. She also complained of having acne on her face and back as well as excessive facial hair, which requires her to shave every other day, and hair beginning to grow on her abdomen. She denied any changes in her voice and or increase in muscle size. She also denied any headaches, blurred vision, or discharge from her nipples. Signs of hypo-and-hyperthyroidism are negative. Lab studies revealed elevated LH, testosterone, and DHEA-S with a decreased FSH. TSH, prolactin, and IGF-1 were all within normal limits.

Ultrasound revealed multiple cysts in her ovaries bilaterally

A

Polycystic Ovarian Syndrome
(Stein-Leventhal Syndrome)
• Multiple ovarian follicular cysts due to hormonal imbalance
• Classic presentation
– Obese young woman with oligomenorrhea, infertility, and hirsutism
• Pathophysiology – Increased LH and Low FSH
– Starts with high LH
– LH stimulates theca cells

137
Q

TQ

Anomalies in structure, function or position of an organ or body region caused by an intrinsic factor

A

malformation

138
Q

TQ

Anomalies in structure, function or position of an organ or body region caused by an extrinsic factor

A

deformations

139
Q

TQ

Agenesis vs aplasia? (dysplasias)

A

-Agenesis – absence of a structure resulting from the ABSENCE of its precursor

140
Q

Defects due to a disruption of an originally normal developmental process


A

disruptions

141
Q

What are the five primary categories of congenital malformations and their relative frequencies?

A

1) Genetic (18%)
2) Environmental (7%)
3) Multifactorial (25%)
4) Twinning
5) Unknown (40-50%)

142
Q

Not every organism responds to a teratogen in the same way. Why? (4)

A

1) Concentration and method of teratogen delivery.
2) Timing of exposure
3) Genetic susceptibility
4) Synergy b/n teratogen & other compounds (OTC meds, illicits, eg)

143
Q

MC infectious agents that lead to congenital abnormality? (6)

A
  • Rubella
  • Cytomegalovirus (HHV-5)
  • Herpes/Varicella
  • HIV
  • Toxoplasmosis (nonviral)
  • Syphilis (nonviral)
144
Q

Infectious Dx?

  • Cataracts (glaucoma, blindness)*
  • Cardiac defects (PDA)*
  • Microcephaly*
  • Deafness
A

Congenital Rubella Syndrome

145
Q

Infectious Dx?

  • Microcephaly
  • Microphthalmia
  • Babies grow slowly (undersized)
A

Cytomegalovirus (CMV)

146
Q

Infectious Dx?

  • retinal dysplasia*
  • microcephaly
  • microphthalmia
  • blisters
A

Herpes

147
Q

Infectious Dx?

  • mental retardation
  • limb hypoplasia
  • muscle atrophy
A

Varicella Zoster

148
Q

Infectious Dx?

-Low teratogenic potential

A

HIV

149
Q

TQ

-Protozoa

A

Toxoplasmosis (nonviral)

150
Q

-Syphilis, caused by a spirochete

A

Treponema palldum (nonviral)

151
Q

MC physical agents that lead to congenital abnormality? (6)

A
  • Ionizing radiation
  • Maternal fever
  • Maternal hyperthermia
152
Q

Physical agent?

  • microcephaly
  • mental & growth retardation
  • leukemia
  • Severity of defect depends on duration & timing of exposure
A

Ionizing Radiation: Acute high dose (>250 rads)
Diagnostic: rarely

note: 
Birth defects (and increased rates of cancer in adults) have been blamed on U.S. depleted uranium from armor-piercing shells used in Iraq, Bosnia, Kosovo and Serbia
153
Q

Physical agent?
-CNS problems
-craniofacial anomalies include:
microcephaly, sm midface, malformed ears, cleft lip.

A

High maternal fevers

Mom gets sick esp early in preg–>very hi fevers, esp teratogenic during 1st trimester. OR sauna/hot tub

154
Q

MC chemical agents that lead to congenital abnormality? (3)

A

1) Pharm drugs
2) Recreational drugs
3) Heavy metals (lead/mercury)

155
Q

Category A: These drugs are the safest. Well-designed studies in humans show no risks to the fetus.

Category _: Evidence shows a risk to the human fetus, but drug benefits may outweigh risks in certain situations.

Category _: Risk to the fetus has been proven to outweigh any possible benefit.

A

D

X

156
Q

What can the anti-anxiety agent diazepam cause?

A

Cleft lip and palate

157
Q

Drug?

Can cause stained teeth & enamel hypoplasia

A

Tetracycline

158
Q

Drug?

  • can cause sensorineural deafness
  • “ototoxic“ or toxic to the cochlear and vestibular system
A

Streptomycin

159
Q 
TQ
Drug?
-can cross the placental barrier 
-hypoplastic (BEAKED/FLAT)*
-hydrocephaly or microcephaly
-upper airway obstructions.
-serious CNS and eye problems, with serious mental retardation and seizures
-calcifications
-Many die in infancy

A

Fetal warfarin syndrome

Warfarin is an anticoagulant (blood thinner) that is prescribed to persons who have had heart-valve replacement surgery or other heart problems.

Use heparin instead!

160
Q 
TQ
Which class of drugs inhibit folate metabolism-->neural tube defects? 
\+course hair and mental def
\+hypoplastic digits
\+smooth filtrum**
A

Anticonvulsants (Valproic acid, trimethadone, diphenylhydantoin)

Fetal hydantoin (dilantin) syndrome

161
Q

Antihypertensives:
___ ______: Intrauterine growth retardation, fetal death.

___-______: *Fetal bradycardia & hypoglycemia, growth retardation.

_____ ______: Growth retardation & a decrease in the fetal levels of oxygen, sodium, and potassium and in the number of platelets.

A

ACE inhibitors

Beta-blockers

Thiazide diuretics

162
Q
  • used in chemotherapy, psoriasis, rheumatoid arthritis, initiate therapeutic abortion.
  • neural tube defects
  • microcephaly, craniosynostosis, micrognathia, and dysplastic, low-set ears.
  • Most patients die in utero or in the first year of life. However, longer-surviving children tend to exhibit normal intelligence.
A

Antineoplastic agents:

  • Aminopterin
  • Methotrexate
  • Busulfan

(dihydrofolate reductase inhibitors…no folate)

163
Q

What has been shown to cause cleft lip/palate in lab rats, suggesting that large doses from dietary supplements should be avoided during pregnancy?

Where else is this chemical found?



A

vitamin A

Accutane, Rogaine (Minoxidil).

Retinoic acid is present as a morphogen in normally developing embryos. However, high doses may cause serious birth defects if taken any time after the 15th day of pregnancy.

164
Q

Mom taking supplement has baby with…Dx?

  • TRIANGLE FACE*
  • Facial asymmetry
  • Dysmorphic external ears
  • Hypertelorism (wide b/t eyes)
  • Facial paralysis
  • Hydrocephaly
  • Microcephaly
  • Mental retard
  • heart problems
A

Retinoic acid embryopathy

165
Q

TQ

  • Very effective anti-emetic for preg women.
  • LIMB DEFECTS
  • Disrupts signal for LIMB genesis, particularly in “Progress zone”–>progress zone stops–>limb stops extending– > thinks it’s distal–>hand/foot develops.
  • *Also used as dietary agent and for Leprosy
A

Thalidomide “Thalimb- no-mide”

166
Q
  • Intrauterine growth restriction
  • BEHAVIORAL PROBS (cant pay attn, learning diff)
  • psychomotor dysfxn
  • abd pain, HA, vomiting, confusion
A

Lead

crosses placental barrier

167
Q

T/F

LSD, PCP, Weed, Cocaine are not proven teratogens

A

TRUE

168
Q
  • Sm, addicted baby.

- Can inc miscarriage, preemies.

A

Opiates:
Heroin, Methadone, Morphine.

Cross placenta.

169
Q

What drug?

-Premature birth

A

METH

170
Q

TQ

  • Mental retardation w/ social/behavioral problems
  • Broad spectrum of defects, esp facial abnmlities,
  • external ear malformations
  • FLAT MIDFACE
  • short nose
  • thin upper lip w/ indistinct philtrum
  • low nasal bridge
A

ETOH

ALCOHOL IS THE MOST COMMON TERATOGEN TO WHICH HUMAN EMBYROS ARE EXPOSED.

3oz daily during first trimester

171
Q

masculinization of the external genitalia in females and may cause hypospadias in male fetuses.

A

Androgenic hormones

172
Q

T/F

Cigarette (Tobacco) smoking has not been linked to major birth defects

A

TRUE

It does contribute to intrauterine growth retardation and premature delivery.

173
Q
  • A synthetic estrogen that was used to prevent spontaneous abortion.
  • causes congenital abnormalities of the vagina & uterus (T- shaped) in women who were exposed in utero.
  • There is also an increased risk for vaginal adenocarcinoma.
A

Diethylstilbestrol (DES)

174
Q

-In addition to fertility issues, which group of women have a greater risk of miscarriage.

A

Anorexic a/o bulimic

175
Q

MOST ELEMENTS OF THE FACE (BONE,CARTILAGE) ARE DERIVED FROM WHICH OF THE FOLLOWING?
A. Cranial intermediate mesoderm
B. Cervical somites
C. Somatic cranial lateral plate mesoderm
D. Neural-crest derived mesenchyme
E. Splanchnic cranial lateral plate mesoderm

A

D. Neural-crest derived mesenchyme

176
Q 
THE DEVELOPING FACE IS FORMED BY TISSUE FROM THE FIRST PHARYNGEAL ARCH. THE CRANIAL NERVE ASSOCIATED WITH THIS ARCH IS WHICH OF THE FOLLOWING?
A. Trigeminal
B. Facial
C. Glossopharyngeal 
D. Vagus
E. Hypoglossal
A

A. Trigeminal

177
Q

A NEWBORN IS BORN WITH A DEEP FISSURE OF THE LEFT NOSTRIL THAT EXTENDS THROUGH THE UPPER LIP. PHYSICAL EXAMINATION SHOWS NO ANOMALIES OF THE MANDIBLE OR PALATE. WHICH OF THE FOLLOWING DEVELOPMENTAL DEFECTS IS MOST LIKELY RESPONSIBLE FOR THESE FINDINGS?
A. Failure of the left lateral palatine process to fuse with the median palatine process
B. Failure of the left maxillary process to fuse with the left nasomedial process
C. Failure of the primary palate to fuse with the secondary palate
D. Failure of the right and left nasomedial prominences to merge
E. Failure of the right palatine process to fuse with the left palatine process

A

B. Failure of the left maxillary process to fuse with the left nasomedial process

178
Q 
THE INTERMAXILLARY SEGMENT FORMS VIA THE FUSION OF WHICH OF THE FOLLOWING?
A. Lateral nasal prominences
B. Mandibular prominences
C. Maxillary prominences
D. Palatine shelves
E. Medial nasal prominences
A

E. Medial nasal prominences

179
Q 
IN THE DEVELOPING FACE, WHICH EMBRYOLOGICAL PROMINENCE IS ASSOCIATED WITH THE FIRST DIVISION OF THE TRIGEMINAL NERVE (CN V1)?
A. Frontonasal 
B. Mandibular 
C. Maxillary
D. Orbital
E. Palatal

How about V2?
How about V3?

A

A. Frontonasal (V1)

V2 = maxillary prominence

V3 = mandibular prominence

180
Q

A FAILURE IN FUSION IN WHICH OF THE FOLLOWING PROCESSES RESULTS IN A SECONDARY OR POSTERIOR CLEFT PALATE?
A. Left and right palatal shelves
B. Mandibular prominences
C. Maxillary and mandibular prominences
D. Medial nasal prominences
E. Palatal shelves and intermaxillary process

A

A. Left and right palatal shelves

181
Q 
DURING YOUR PEDIATRIC CORE CLERKSHIP, YOU ASSIST IN THE EVALUATION OF A NORMAL‐APPEARING NEWBORN WHO PRESENTS WITH DIFFICULTY IN FEEDING. THE BABY EAGERLY ACCEPTS MILK FROM A DROPPER BUT EXHIBITS DIFFICULTY IN SUCKLING FROM A BOTTLE. WHAT UNDIAGNOSED CONGENITAL ABNORMALITY COULD BE RESPONSIBLE?
A. Abnormal innervation of CN IX 
B. Cleft palate
C. DiGeorge syndrome
D. Lateral facial cleft
E. Second arch syndrome
A

B. Cleft palate

no suction if you do not have roof to cavity

182
Q 
DURING YOUR OB/GYN ROTATION YOU ASSIST IN THE DELIVERY OF A NEWBORN WITH CRANIOFACIAL ANOMALIES. THE BABY HAS MICROGNATHIA, A CLEFT PALATE AND GLOSSOPTOSIS. WHICH OF THE FOLLOWING IS THE MOST LIKELY DIAGNOSIS?
A. Digeorge Syndrome
B. Hemifacial microsomia
C. Pierre Robin Syndrome
D. Treacher Collins Syndrome
E. Velocardiofacial Syndrome
A

C. Pierre Robin Syndrome

183
Q 
FAILURE OF THE FRONTONASAL PROCESS TO DEVELOP OR FUSE WITH THE SURROUNDING CRANIOFACIAL PROCESSES RESULTS IN WHICH OF THE FOLLOWING MALFORMATIONS?
A. Bilateral complete cleft palate 
B. DiGeorge syndrome
C. Facial cleft malformation
D. Pierre Robin sequence
E. Unilateral complete cleft palate
A

C. Facial cleft malformation

184
Q

IN CASES OF HOLOPROSENCEPHALY, DEFECTS OF FACIAL STRUCTURES ARE TYPICALLY SECONDARY TO DEFECTS OF WHICH OF THE FOLLOWING?

a. Eyes (micropthalamia)
b. Forebrain
c. Midbrain & cerebellum
d. Hindbrain
e. Oronasalcavity

A

b. Forebrain

185
Q 
DURING YOUR PEDIATRIC CLERKSHIP, YOU ASSIST IN THE EVALUATION OF AN INFANT WHO IS BROUGHT IN BECAUSE HIS PARENTS THINK THATHISHEAD“DOESN’TLOOKNORMAL.” THECHILDHASALONG WEDGE‐SHAPED SKULL AND YOU ARE ASKED FOR YOUR OPINION REGARDING A DIAGNOSIS. CLOSER PHYSICAL EXAMINATION REVEALS THAT THE SUTURES BETWEEN THE PARIETAL BONES ARE PREMATURELY FUSED. WHAT WOULD BE YOUR INITIAL DIAGNOSIS?
A. Brachycephaly 
B. Hydrocephaly 
C. Plagiocephaly
D. Scaphocephaly 
E. Trigonocephaly
A

D. Scaphocephaly

186
Q 
AN INFANT IS BROUGHT INTO THE CLINIC FOR A WELL‐BABY CHECK. THE CHILD HAS A VERY SHORT AND WIDE SKULL. CLOSER PHYSICAL EXAMINATION REVEALS THAT THE CORONAL SUTURES ARE PREMATURELY FUSED. WHAT IS THE MOST LIKELY DIAGNOSIS?
A. Brachycephaly 
B. Hydrocephaly 
C. Plagiocephaly 
D. Scaphocephaly 
E. Trigonocephaly
A

A. Brachycephaly

187
Q

Premature fusion of lambdoid suture:

Premature fusion of meitopic suture:

A

Lambdoid suture = Plagiocephaly

Meitopic suture = Trigonocephaly

188
Q

In the normally developing embryo, aortic arches are apparent by the end of the fourth week. Which of the following arteries is derived from the third pair of aortic arches?

A

A. Carotid

189
Q

Meckel’s cartilage is a prominent structure in the early formation of which of the following?
A. Hard palate

A

B. Mandible

190
Q

1st-arch neural crest fails to migrate ->

Mandibular hypoplasia, facial abnormalities

A

Treacher-Collins syndrome

191
Q 
The second pharyngeal arch contributes to the formation of which of the following?
A. Auditory tube and incus
B. Auditory tube and stapes
C. Cochlea and ear lobe
D. Otic vesicle and stapes
E. Stapes and ear lobe
A

B. Auditory tube and stapes

192
Q

In the developing embryo, pharyngeal arches are formed. The second (branchial) arch gives rise to the stapedius, orbicularis oris, and posterior belly of the digastric muscles. Which of the following cranial nerves is also derived from this arch?
A. III

A

C. VII (Facial N)

193
Q 
Damage to the glosspharyngeal nerve would result in paralysis of which of the following?
A. Hyoglossus
B. Palatopharyngeus
C. Styloglossus
D. Stylopharyngeus
E. Tensor Veli Palatini
A

C. Stylopharyngeus

194
Q

Explain Stern’s Rule for muscles of the head and neck and their innervation.

A

Stern’s Rule:
“Tensor” – CN V (Trigeminal)
“Palat” – CN X (Vagus)
“Glossus” – CN XII (Hypoglossal)

Hierarchical… e.g., Palatoglossus – CN X (Vagus)

195
Q 
A female infant is born with malformations of the face related to abnormal development of the pharyngeal arches. These include abnormal patterns of muscles of facial expression and mastication. Which of the following functional components is associated with those cells that innervate skeletal muscles originating from pharyngeal arches?
A. GSA
B. GSE
C. GVE
D. SVA
E. SVE
A

E. SVE

Innervation of muscles derived from the branchial arches is referred to as “branchial motor” – SVE

196
Q

A boy presents with mandibular hypoplasia, hearing loss, downward slanting eyes, micrognathia, underdeveloped zygoma, drooping part of the lateral lower eyelids and
malformed of ears. These physical findings are related to a defect in development in which of the following?
A. First arch
B. Second arch
C. Third arch
D. Fourth arch
E. Sixth arch

A

A. First arch

Treacher-Collins syndrome, aka Mandibulo-facial dysostosis:

  • TCOF1 gene – Treachle protein
  • Neural crest cells fail to migrate to 1st and 2nd pharyngeal arches
  • AD, Chr. 5

(External ear abnormalities – think 1st arch)

197
Q

Micrognathia
Glossoptosis
Airway obstruction

Dx?

A

Pierre Robin sequence

1st arch abnormality

198
Q 
A newborn is evaluated for minor craniofacial abnormalities. On assessment, it is discovered that there is no external auditory canal. Lack of an external auditory canal is related to abnormal development of which of the following?
A. First pharyngeal cleft
B. First pharyngeal pouch
C. Second pharyngeal cleft
D. Second pharyngeal pouch
E. Third pharyngeal cleft
A

A. First pharyngeal cleft

199
Q

T/F: Tympanic membrane contains ectoderm, a little bit of mesoderm, AND endoderm on the inside.

A

TRUE

200
Q

Ant asp of SCM with fluid coming out

A

C. Pharyngeal (branchial) cyst

201
Q

Ext auditory meatus

A

B. First pharyngeal cleft

202
Q

Question that talks about something off of midline of the neck (SCM). What are you thinking?

A 
Pharyngeal cyst
Pharyngeal fistula (purulent outward drainage)
203
Q

The two superior and two inferior parathyroid glands are found adjacent to the posterior aspect of the thyroid gland. From which of the following are these parathyroid glands derived in embryologic development?

A

D. Pharyngeal pouches

204
Q 
A child is evaluated for a very small mandible and ears that are represented by small protuberances bilaterally. The baby has had numerous episodes of pneumonia and is small for its age. What is the most likely diagnosis?
A. DiGeorge syndrome
B. First arch syndrome
C. Hemifacial microsomia
D. Pierre Robin syndrome
E. Treacher Collins syndrome
A

A. DiGeorge syndrome

  • Presents looking like 1st arch problem, BUT then you see recurrent infections (due to T cell deficiency.
  • May also see hypocalcemia
  • 22q11 deletion syndrome

Aberrant development of 3rd and 4th pouches -> T cell deficiency (thymic aplasia) and hypocalcemia (failure of parathyroid development). Also associated with cardiac defects (conotruncal anomalies).

205
Q

The anterior endoderm of the fourth pouch develops an ultimobranchial body that migrates to the thyroid gland and becomes part of the gland. Cells from the ultimobranchial body differentiate into __________ ____ (C cells) that produce _________.

A

The anterior endoderm of the fourth pouch develops an ultimobranchial body that migrates to the thyroid gland and becomes part of the gland. Cells from the ultimobranchial body differentiate into PARAFOLLICULAR CELLS (C cells) that produce CALCITONIN.

206
Q

The fact that the posterior one-third of the tongue is innervated by the glossopharyngeal nerve (for both somatic and sensory innervation) reflects the development of its mucosa along side which of the following?

A

C. Third pharyngeal arch

207
Q 
A 15-year-old male has a noticeable swelling in his neck that recently began increasing in size. The swelling is located in the midline of the neck, just inferior to the hyoid bone. The mass moves upward with protrusion of the tongue. What is the most likely embryological origin of this swelling?
A. Cervical sinus
B. Second pharyngeal pouch
C. Third pharyngeal groove
D. Ectopic lingual tonsil
E. Thyroglossal duct cyst
A

E. Thyroglossal duct cyst

208
Q

MEMORANG REVIEW ($$$ slide 46):

Aortic arch derivatives
Branchial cleft derivatives
Branchial (pharyngeal) arch derivatives
Branchial pouch derivatives

A

REVIEW ON MEMORANG!

Repro Midterm (8 decks)

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