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147 Cards in this Set

  • Front
  • Back
Sonic Hedgehog Gene
Produced in zone of polarizing acitivty and is responsible for anterior-posterior axis
Wnt-7 gene
Produced at apeical ectodermal ridge and necessary for dorsal-ventral axis organization
FGF Gene
Produced at apical ectodermal ridge and stimulates mitosis of underlying mesoderm - limb lengthening
Homeobox Gene
Segmental organization of embryo in craino-caudal direction
Fetal landmarks Day 0
Fertilation by sperm - zygote formation
Fetal Landmarks within week 1
hCG secretion after blastocyst implantation
Fetal Landmarks within week 2
Bilaaminar disk comprised of epiblast and hypoblast
Fetal Landmarks within week 3
Gastrulation. Formation of primitive streak, notochord, and neural plate
Fetal Landmarks weeks 3-8
Neural tube formed by neuroectoderm. Closure of neural tube by week 4.
Organogenesis
Period of susceptibility to teratogens
Fetal Landmarks week 4
Heart beat
Upper and lower limb buds
Fetal Landmarks within week 8
movement
fetus looks like baby (fetal period)
Fetal Landmarks week 10
genitalia have male or female characteristics
Neural Development
- Notochord induces ectoderm to form neuroectoderm and neural plate
- Neural plate gives rise to neural tube and neural crest
- Notochord becomes nucleus pulposus (part of intervertebral disk in adults)
Fetal Spinal Cord
Fetal spinal cord
Alar - dorsal - Sensory
Basal - ventral - Motor
Rule of 2's
2nd week
2 germ layers (epiblast, hypoblast): bilaminar disk
2 cavities (amniotic cavity, yolk sac)
2 placental parts (cytotrophoblast, syncytiotrophoblast)

epiblast - ectoderm precursor, invaginates to form primitive streak, which gives rise to intraembryonic mesoderm and part of endoderm
Rule of 3's
3rd week
3 germ layers (ecto, meso, endo): gastrula
Rule of 4s
4th week
4 heart chambers
4 limb buds grow
Surface ectoderm derivatives
Adenohypophysis (from Rathke's pouch), sensory organs of ear, lens, oral and olfactory epithelium, epidermis, salivary/sweat/mammary glands
3 types of ectoderm derivatives
Surface ectoderm
Neuroectoderm
Neural crest
Endoderm Derivatives
Gut tube epithelium (lungs, liver, pancreas, thymus, parathyroid, thyroid follicular cells
Neuroectoderm derivatives
Brain (CNS and neurohypophysis), retina, spinal cord
Mesoderm Derivatives
Muscle, bone, CT, serosas, spleen, CV, lymph, blood, bladder, urethra, vagina, eustachian tube, kidneys, adrenal cortex, dermis, testis, ovaries
Neural crest derivatives
ANS, PNS ( dorsal root ganglia, CNs, celiac ganglion), melanocytes, chromaffin cells of adrenal medulla, parafollicular C cells of thyroid, bones of skull, odontoblasts (Odonto-Crest toothpaste), aorticopulmonary septum
Malformation
Malformation - intrinsic disruption (week 3-8)
Deformation
Extrinsic disruption (after week 8)
Agenesis
Absent organ due to absent primordial tissue
Hypoplasia
Incomplete organ development in presence of primordial tissue
Aplasia
Absent organ in presence of primordial tissue
VACTERL Association
Mesoderm defects

Vertebral, Anal atresia, Cardiac, Tracheo-Esophageal fistula, Renal, Limb
Craniopharyngioma
Benign Rathke's pouch tumor w/ cholesterol crystals and calcifications
Teratogen effects:
Before week 3
Weeks 3-8
After week 8
Before week 3: all-or-none effect
Weeks 3-8: most susceptible
After week 8: growth and function affected
Teratogen effects:
ACE Inhibitors
Renal damage
Teratogen effects:
Alcohol
Fetal alcohol syndrome
Leading cause of birth defects and mental retardation
Teratogen effects:
Alkylating agents
Absence of digits, multiple anomalies
Teratogen effects:
Aminoglycosides
CN VIII toxicity (also cause ototoxicity, as well as nephrotoxicity, in adults)
Teratogen effects:
Cocaine
Abnormal fetal dev't and fetal addiction
Placental abruption
Spontaneous abortion
IUGR
Teratogen effects:
Diethylstilbestrol (DES)
Vaginal clear cell adenocarcinoma
Teratogen effects:
Folate antagonists
NTDs
Teratogen effects:
Iodide (lack or excess)
Congenital goiter or hypothyroidism
Teratogen effects:
Lithium
Ebstein's anomaly (atrialized RV)
Teratogen effects:
Maternal diabetes
Caudal regression syndrome (ranges from anal atresia to sirenomelia: fused legs; agenesis of sacrum --> flaccid paralysis of legs and urinary incontinence)

Macrosomia
Teratogen effects:
Smoking (nicotine, CO)
Preterm labor
Placental problems
IUGR
ADHD
Teratogen effects:
Tetracyclines
Discolored teeth
Bone growth retardation
Teratogen effects:
Thalidomide
Limb defects ("flipper limbs")
Teratogen effects:
Valproate and carbamazepine
Inhibition of intestinal folate absorption --> NTDs
Teratogen effects:
Vitamin A excess
V. high risk for spontaneous abortions and birth defects (cleft palate, cardiac abnormalities, CNS defects)
Teratogen effects:
Warfarin
Bone deformities
Fetal hemorrhage
Abortion
Teratogen effects:
X-rays and anticonvulsants
Multiple anomalies
Teratogen effects:
Marijuana
Low birth weight
Teratogen effects:
Aspirin
Bleeding
There are ___ umbilical arteries and __ umbilical veins
2
1
Single umbilical artery is associated with
Congenital and chromosomal anomalies
Umbilical arteries and veins are derived from?
Allantois, which becomes urachus at 3rd week (duct btwn bladder and yolk sac)
Failure of urachus to obliterate causes these two abnormalities
Patent urachus
Vesicourachal diverticulum
Patent urachus
Urine discharge from umbilicus
Vesicourachal diverticulum
Outpuching of bladder
Another word for the vitelline duct
Omphalomesenteric duct
Function of vitelline duct
Connects yolk sac to midgut lumen; obliterated at 7th wk
2 vitelline duct abnormalities
Vitelline fistula
Meckel's diverticulum
Vitelline fistula
Failure of duct to close --> meconium discharge from umbilicus
Meckel's diverticulum
Partial closure of vitelline duct, with patent portion attached to ileum

May have ectopic gastric mucosa --> melena and periumbilical pain
3 types of embryological veins and their fates
Umbilical --> degenerate
Vitelline --> veins of portal system
Cardinal --> veins of systemic circulation (drain into sinus venosus in utero)
Truncus arteriosus -->
Ascending aorta and pulmonary trunk (split by neural crest migration)
Failure of neural crest migration to split the truncus arteriosus leads to these 3 cyanotic congenital heart diseases
Transposition
ToF
Persistent TA
Bulbus cordis -->
RV and smooth parts of L and R ventricle
Primitive ventricle -->
Trabeculated parts of L & R ventricle
Primitive atria -->
Trabeculated L and R atria
L horn of sinus venosus
Coronary sinus
R horn of sinuus venosus
Smooth part of RA
R common cardinal vein and R anterior cardinal vein
SVC
Endocardial cushion defects -->
AV septum defects (membranous septal defect)
Is the foramen ovale in septum primum or secundum?
Septum secundum
Cause of patent foramen ovale
Excessive resorption of septum primum and/or secundum
4 sites of fetal erythropoiesis
Young Liver Synthesizes Blood

Yolk sac (3-8wks)
Liver (6-20wks)
Spleen (9-28 wks)
BM (29 wks onward)
Ductus venosus
Umbilical vein --> IVC (bypassing hepatic circulation
Foramen ovale
IVC --> aorta (bypassing lungs)
Ductus arteriosus
Pulmonary artery --> aorta (bypassing lungs)
Why does the foramen ovale close at birth
Decreased resistance in pulmonary resistance with first breath: LAP > RAP
Name for foramen ovale after it is closed?
Fossa ovalis
3 brain primitive structures
Prosencephalon, mesencephalon, rhombencephalon
Derivatives of prosencephalon
Prose tells of someone dying
Telencephalon --> cerebral hemispheres
Diencephalon --> thalami
Mesencephalon
Metencephalon --> mibrain
Rhombencephalon
Rhombus needs a meter to measure its miles

Metencephalon--> pons, cerebellum
Myelencephalon --> medulla
Elevated AFP and acetylcholinesterase in CSF indicate
Neural tube defect
Holoprosencephaly is associated with these three things
Patau's Syndrome
Severe fetal alcohol syndrome
Cleft lip/ palate
Chiari II
Cerebellar tonsillar herniation
Presents w/ syringomyelia, thoracolumbar myelomeningocele
Dandy-Walker
Large posterior fossa; absent cerebellar vermis w/ cystic enlargement of 4th ventricle

Can lead to hydrocephalus and spina bifida
Branchial clefts, arches, and pouches are derived from which -derms?
Clefts: ectoderm
Arches: mesoderm
Pouches: endoderm
1st branchial cleft develops into
External auditory meatus
2nd thru 4th clefts form _____, which are obliterated
Temporary cervical sinuses
Persistent cervical sinus -->
Branchial cleft cyst w/in lateral neck
Branchial Arch 1: M
Cartilage, Muscles, and Nerves
Meckel's cartilage (mandible, malleus, incus, sphenoMandibular ligament)

Mastication muscles, mylohyoid

CN V2 and V3
Branchial Arch 2: S
Cartilage, Muscles, and Nerves
Reicher's cartilage: Stapes, Styloid process, less horn of hyoid, Stylohyoid ligament

Muscles of facial expression, Stapedius, Stylohyoid

CN VII
Branchial Arch 3: Pharyng
Cartilage, Muscles, and Nerves
Greater horn of hyoid
Stylopharngeus
CN IX (glossopharyngeal)
Branchial Arch 4-6
Cartilage, Muscles, and Nerves
Cartilages: thyroid, cricoid, arytenoids ,corniculate, cuneiform

4th arch is cricothyroid, 6th arch is all intrinsic muscles of larynx except cricothyroid

CN X (4th arch: swallowing form superior laryngeal branch, 6th arch: speaking from recurrent laryngeal branch)
1st branchial pouch
Endoderm-lined structures of ear
2nd branchial pouch
Epithelial lining of palatine tonsil
3rd branchial pouch
Inferior parathyroids and thymus (3rd pouch structures end up below 4th opuch structures)
4th branchial pouch
Superior parathyroids
Tongue development involves which branchial arches?
Anterior 2/3: 1st arch
Posterior 1/3: 3rd and 4th arches
Pyramidal lobe of thyroid, if it exists, is a persistent?
Thyroglossal duct (connects thyroid diverticulum to tongue)
Foramen cecum is remnant of
Thyroglossal duct
Most common ectopic thyroid tissue site?
Tongue
How to differentiate thyroglossal duct cyst from branchial cleft cyst
Thryoglassal: midline, moves with swallowing
Branchial cleft (from persistent cervical sinus): lateral neck, stationary with swallowing
When does a lingual thyroid occur
If thyroid falls to migrate downward
Potential complication of removal of lingual thyroid?
Hypothyroidism if is only thyroid tissue
Cleft lip
M&Ms

Failure of fusion of maxillary and medial nasal process
Cleft palate
Palatine

Failure of fusion of lateral palatine process, nasal septum, and/or medial palatine process
Foregut, midgut, and hindgut
Midgut consists of?
Duodenum to transverse colon
What causes jejunal, ileal, or colonic atresia?
Vascular accident (apple peel atresia)
Normal midgut development
Herniates thru umbilical ring, then returns and rotates around SMA
Pathology of midgut development
Malrotation of midgut, omphalocele, intestinal atresia or stenosis, volvulus
Gastroschisis
Extrusion of abdominal contents thru abdominal folds
Omphalocele
Persistence of herniation of abdominal contents into umbilical cord
How to distinguish gastroschisis from omphalocele
Gastroschisis: not covered by peritoneum, often not midline

Omphalocele: covered by peritoneum, midline
Palpable "olive" mass in epigastric region + nonbilious projectile vomiting at 2wks in first born male
Congenital pyloric stenosis (from hypertrophy of pylorus --> obstruction)
Dorsal and ventral pancreatic buds -->
Pancreatic head
Main pancreatic duct
Ventral pancreatic bud -->
Uncinate process
Dorsal pancreatic body -->
Everything else
Annular pancreas
Ventral bud abnormally encircles duodenum: ring of pancreatic tissue may cause narrowing --> recurrent bilous vomiting
Pancreas divisum
Ventral and dorsal parts fail to fuse (2 ducts open into duodenum)
Usually clinically silent; may predispose to pancreatitis
Spleen: mesoderm or endoderm?
Mesoderm, but supplied by celiac artery (of foregut)
3 stages of kidney embryology
Pronephros --> mesonephros --> metanephros
Ureteric bud -->
Ureter, pelvises, calyces/ collecting ducts
Metanephric mesencyme -->
Glomerulus, renal tubules
Most common site of renal obstruction (hydronephrosis) in fetus?
Ureteropelvic junction with kidney (last to canalize)
Bilateral renal agenesis leads to
Potter's Syndrome
3 sequelae of Potter's Syndrome
Limb deformities, facial deformities, pulmonary hypoplasia (respiratory failure w/in hours)
Cause of Potter's Syndrome
Malformation of ureteric bud
Horseshoe kidney
Inferior poles of both kidneys fuse
Complications of horseshoe kidney
Normal function, but can lead to urinary tract obstruction/ hydronephrosis
Cells that secrete Mullerian inhibitory factor
Sertoli: suppresses development of paramesonephric ducts
What stimulates development of mesonephric ducts?
Increased andorgens from Leydig cells
Another name for mesonephric duct
Wollfian
Another name for paramesonephric duct?
Mullerian
Which male internal structure is not derived from the Wolffian duct?
Pancreas (is from urogenital sinus)
Incomplete fusion of paramesonephric ducts -->
Bicornuate uterus
Which is more common, hypospadius or epispadius?
Hypospadias
Hypospadias can predispose to
UTIs
Epispadias is associated with
Exstrophy of bladder
What causes hypospadias?
Failure of urethral folds to close
What causes epispadias?
Faulty positioning of genital tubercle
Consequence of failutre of obliteration of processus vaginalis (normall forms tunica vaginalis)
Connection between scrotum and peritoneal cavity:
If small --> hydrocele
If large --> indirect inguinal hernia
Genital tubercle -->
Glans penis and glans clitoris
Corpus c/s and vestibular bulbs
URogenital sinus -->
Glands
Urogenital folds -->
Ventral shaft of penis (penile urethra) and labia minora
Labioscrotal swelling -->
Scrotum and labia majora