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97 Cards in this Set

  • Front
  • Back
What do the following genes responsible for?

1. Sonic-hedgehog
2. Wnt-7
3. FGF
4. Homeobox
1. anterior-posterior axis patterning of the limbs
2. dorsal-ventral axis patterning of the limbs
3. lengthening of the limbs
4. segmental organization
What is Weeks 3-8 referred to as

What happens during this time
"Embryonic period"

organogensis, teratogen susceptibility, neural tube formed by neuroectoderm and closes by week 4
When does hCG secretion begin? from where?

when does the fetal period begin
within first week of blastocyst implantation by syncytioblasts of placenta

Week 8
what are the alar plate and basal plate
have the same orientation as the spinal cord

alar: dorsal = sensory
basal: ventral = motor
what is a craniopharyngioma
benign Rathke's pouch tumor w/cholesterol crystals, calcification
what is the nucleus pulposus derived from?

where is aorticopulmonary septum derived from?
notochord

neural crest cells
what are mesodermal defects
VACTERL
Vertebral defects
Anal atresia
Cardiac defects
Tracheo-Esophageal fistula
Renal defects
Limb defects (bone and muscle)
what is the leading cause of birth defects and mental retardation

What congenital malformation is associated with maternal diabetes?
EtOH

caudal regression syndrome: anal atresia to sirenomelia (Mermaid's syndrome)
what is the leading cause of congenital malformation in the US

What teratogen is associated with bone deformities, fetal hemorrhage and abortion?
Fetal Alcohol syndrome

Warfarin
what drug causes discolored teeth in the fetus

what effect does valproate cause on the fetus
tetracyclines

Valproate inhibits intestinal folate absorption
what drug causes CN VIII toxicity in the fetus

what effect do alkylating agents have on the fetus
aminoglycosides

absence of digits, multiple anomalies
What drug causes abnormal fetal development and fetal addiction, placental abruption

What effect does Lithium have on the fetus
cocaine

Epstein's anomaly = atrialized R ventricle + ASD and/or PDA
what is the decidua basalis
maternal component of the placenta

derived from endometrium
maternal blood in the lacunae
how many umbilical arteries and veins are there in the umbilical cord

and what are their functions
2 umbilical arteries: return deO2 blood from fetal internal iliac arteries to placenta

1 umbilical vein: supplies O2 blood from placenta to fetus
where are the umbilical arteries and vein derived from
from the allantois
what does a single umbilical artery mean
is assoc w/congenital and chromosomal anomalies
allantois
yolk sac forms allantois in 3rd week, it extends into urogenital sinus

allantois becomes urachus, a duct b/w bladder and yolk sac
urachus
duct b/w bladder and yolk sac
what happens if the urachus fails to obliterate
1. patent urachus: urine discharge from umbilicus
2. vesicourachal diverticulum: outpouching of bladder
what is the vitelline duct

When does the vitelline duct close? What happens if the vitelline duct fail to close?
connects yolk sac to midgut lumen

7th week

Vitelline fistula: meconium discharge from umbilicus
what is the coronary sinus derived from
left horn of the sinus venosus
what is the smooth part of the right atrium derived from
Right horn of the sinus venosus
what is the progression of where fetal erythropoiesis happens
Yolk sac (3-8 wk)
Liver (6-30 wk)
Spleen (9-28)
Bone marrow (28 wk onward)

"Young Liver Synthesizes Blood"
what is the postnatal derivative of the umbilical arteries

of the allantois/urachus
mediaL umbilical ligaments (umbiLical)

mediaN umbilical ligaments (allaNtois/urachus)
in what adult ligament is the ligamentum teres contained in

what is the ligamentum teres a postnatal derivative of
falciform ligament

the umbilical vein
what are the 1st and 2nd aortic arch derivatives
1- part of Maxillary artery (first arch is MAXimal)
2- Stapedial artery and hyoid artery (Second = Stapedial)
what are the 3rd and 4th aortic arch derivates
3: common Carotid artery and proximal part of the ICA (C is the 3rd letter of alphabet)
4 on L: aortic arch
on R: proximal part of the R subclavian artery
what is the 6th aortic arch derivative
proximal part of the pulmonary arteries
on L only, ductus arteriosus

6th arch = pulmonary and the pulmonary-systemic shunt (ductus arteriosus)
what markers are elevated in a neural tube defect:

in serum?
in CSF?
serum: AFP increased (and in amniotic fluid)

CSF: increased AFP and acetylcholinesterase
in what situation does anencephaly occur?
malformation of anterior end of neural tube

associated with no brain/calvarium, elevated AFP, and polyhydramnios (due to no swallowing center in the brain)
what is Holoprosencephaly
decreased separation of hemispheres across midline -> cyclopia

assoc w/Patau's syndrome, severe fetal alcohol syndrome, cleft lip/palate
what is Arnold Chiari Type II

what does it often present with
cerebellar tonsillar herniation through foramen magnum w/aqueductal stenosis and hydrocephaly

presents w/syringomyelia, thoracolumbar myelomeningocele
what is dandy-walker

what can it lead to
large posterior fossa, absent cerebellar vermis w/cystic enlargement of 4th ventricle

lead to hydrocephalus and spina bifida
what nerves supply the 1st and 2nd branchial arches

what are the functions of the first 2 arches
Arch 1: CN V2 and V3
function is chewing

Arch 2: CN VII
facial expression
what nerves supply the 3rd, 4th and 6th branchial arches

what are their functions
Arch 3: CN IX
pharynx (stylopharyngeus)

Arch 4: CN X (superior laryngeal branch)
swallowing (most pharyngeal constrictor and cricothyroid, which is an intrinsic laryngeal muscle)

Arch 6: CN X (recurrent laryngeal branch)
speaking (all intrinsic larynx muscles, except cricothyroid)
what is Treacher Collins syndrome
1st arch neural crest fails to migrate -> mandibular hypoplasia, facial abnormalities
what is the mutation in MEN2A
germline RET (neural crest cells)
what does the 1st branchial cleft develop into
the external auditory meatus
what do the 2nd and 4th branchial clefts develop into
form temporary cervical sinuses but are obliterated by proliferation of the 2nd branchial arch mesenchyme
what does the 1st branchial pouch develop into
middle ear cavity, eustachian tube, mastoid air cells

contributes to endoderm-lined structures of ear
what does the 3rd branchial pouch develop into

what does the 4th branchial pouch develop into
3rd: inferior parathyroids and thymus

4th: superior parathyroids

3rd ends up below 4th
what does the 1st branchial membrane develop into
the tympanic membrane
what branchial aches form the ant 2/3 and post 1/3 of the tongue
ant 2/3: 1st arch

post 1/3: 3rd and 4th arches
what is the foramen cecum
normal remnant of the thyroglossal duct
what is the most common ectopic thyroid tissue site?
mechanism?
the tongue (linguial thyroid gland)
failure of migration of thyroid gland

if removed, hypothyroidism
what causes a cleft lip
failure of fusion of maxillary and medial nasal processes
what causes a cleft palate
failure of fusion of lateral palatine processes, nasal septum +/or medial palatine process
what is the diaphragm derived from
Septum transversum -> central tendon
Pleuroperitoneal folds
Body wall
Dorsal mesentery of esophagus- > crura

"Several Parts Build Diaphragm"
what causes bladder exstrophy
failure of caudal body fold closure in abdominal wall
what is gastroschsis
failure of lateral body folds to fuse -> extrusion of ab contents thru ab folds (not covered in peritoneum)
what is omphalocele
persistence of herniation of ab contents into umbilical cord, covered by peritoneum
what is the difference b/w gastroschisis and omphalocele
gastroschisis is not usually covered by peritoneum and is not usually in midline, unlike omphalocele
what is an apple peel atresia
jejunal, ileal, colonic atresia due to vascular accident
what time during gestation do the intestines return to the ab cavity and rotate around SMA
10th week
around what artery do fetal intestines rotate around
SMA
what does failure of rostral body fold closure (of the anterior abdominal wall) cause?
sternal defects
what are the signs of a tracheo-esophageal fistula
cyanosis, choking and vomiting w/feeding, air bubble on CXR, polyhydramnios
what causes a palpable "olive mass" in epigastric region and nonbilious projectile vomiting at ~ 2 weeks of age
congenital pyloric stenosis
what causes congenital pyloric stenosis
hypertrophy of the pylorus causes obstruction
the GI foregut gives rise to what
pharynx to duodenum
what does the ventral pancreatic bud give rise to

what does the dorsal pancreatic bud give rise to
ventral: pancreatic head, uncinate process (lower half of head), and main pancreatic duct

dorsal: everything else
what is pancreas divisum?

risk for what later in life?
ventral and dorsal parts fail to fuse at 8 weeks

risk factor for acute or recurrent pancreatitis
annular pancreas
ventral pancreatic bud abnormally encircles 2nd part of duodenum forming a ring of pancreatic tissue that may cause duodenal narrowing

due to abnormal migration
may present with recurrent bilious vomiting
from what does the spleen arise

and what is its blood supply
arises form dorsal mesentery (it's mesodermal)

celiac artery (artery of foregut) is its blood supply
what is the most common site of urinary obstruction in the fetus
uteropelvic junction w/kidney

last to canalize -> hydronephrosis
What does the metanephric mesenchyme give rise to
glomerulus and renal tubules to DCT
what causes Potter's syndrome
bilateral renal agenesis -> oligohydramnios -> limb deformities, facial deofrmities, pulmonary hypoplasia

caused by malformation of ureteric buc
what are the findings in Potter's syndrome
bilateral renal agenesis -> oligohydramnios -> limb deformities, facial deformities, pulm hypoplasia
under what artery do horseshoe kidneys get trapped
IMA
what does the SRY gene on the Y chromosome code for
testis determining factor
what secretes Mullerian inhibiting factor/substance

what does it do
sertoli cells

suppresses development of paramesonephric ducts
what does the mesonephric duct develop into
male internal structures

SEED
Seminal vesicle, Ejaculatory Duct
Epididymis, Ductus deferens
how does a bicornuate uterus form

what is it assoc w/

how is it found?
incomplete fusion of paramesonephric ducts

assoc w/urinary tract abnormalities and infertility

seen via hysterogram
what causes hypospadias?

increases risk for what?
failure of urethral folds to close

increases the risk of UTI
what causes epispadias?

what is it associated with?
faulty positioning of genital tubercle

associated with bladder exstrophy (due to failure of caudal fold of the anterior abdominal wall to close)
what congenital penile abnormality is exstrophy of the bladder assoc w/
epispadias
what is a complication of hypospadia (why does it need to be fixed)
to prevent UTIs
what does the labioscrotal swelling develop into
male: scrotum

female: labia majora
what do the urogenital folds develop into
male: ventral shaft of penis (penile urethra)

female: labia minora
iodide (lack or excess) causes what congenital deformity?
congenital goiter or hypothyroidism
Thlidomide causes what congenital deformity?
Limb defects ("flipper" limbs)
Vitamin A (excess) causes what congenital deformity?
extremely high risk for spontaneous abortions and birth defects (cleft palate, cardiac abnormalities)
Describe the timeline of monozygotic timeline in terms of chorion and aminion.
0-72 hrs: dichorionic, diamniotic
4-8 days: monochorionic, diaminiotic
8-13 days: monochorionic, monodiamniotic
13 + days: conjoined twins
Dichorionic twin

is it monozygotic or dizygotic?
can be both
What 2 hormones are secreted by syncytiotrophoblast?
hCG and HPL
what is the function of HPL?
stmulates IGF -> lipolysis and gluconeogenesis
When does hCG level peak during pregnancy?
week 10
Truncus arteriosus develops into what 2 structures?
ascending aorta and pulmonary trunk
bulbus cordis develops into what structure?
right ventricle and smooth parts (outflow tract) of left and right ventricle
superior vena cava developed from what 2 structures?
right common cardinal vein and right anterior cardinal vein
failure of neural crest migration to form aorticopulmonary septum.

What 2 pathologies?
transposition of great vessels
tetralogy of Fallot
what forms membranous interventricular septum?
aorticopulmonary septum
what forms the opening of foramen ovale?

what forms the valve of foramen ovale?
opening: septum secundum

valve: septum primum
Describe how the ear ossicles are derived from. How are they innervated?
1st branchial arch: Malleus/incus, innervated by tensor tyMpani (V3)

2nd arch: Stapes; innervated by Stapedius (VII)
Meckel's cartilage

what is its derivation?
what are derived form it?
Branchial arch 1 derivation

includes Mandible, Malleus, inclus, spheno-Mandibular ligament
Reichert's cartilage:

what is its derivation?
what are derived from it?
Branchial arch 2 derivation

indluces Stapes, Styloid process, less horn of hyoid, Stylohyoid ligament
Congenital biliary atresia

what is it?
sxs?
congenital obstruction of extrahepatic bile ducts

sxs: cholestatic picture of acholic (light) stools and dark urine. firm, enlarged liver.

increased direct bilirubin, alkaline phosphatase, GGT

#1 reason for liver transplant in children