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125 Cards in this Set

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  • Back
What anatomical region is the Sonic Hedgehog gene produced in, and what does it do?
SHH is produced at the base of limbs, and are involved in patterning along anterior-posterior axis
Where is the Wnt-7 gene produced and what is its function?
Wnt-7 is produced at apical ectodermal ridge (@ distal end of developing limbs), and is necessary for proper organization along dorsal-ventral axis.
Where is FGF produced and what is its function?
FGF is produced at the apical ectodermal ridge, and it stimulates mitosis of underlying mesoderm thus lengthening limbs.
What is the function of the Homeobox gene?
It is involved in segmental organization
What are the developmental landmarks associated with week 1 of fetal development?
hCG secretion begins after implantation of blastocyst. and is detectable by ay 8 post-ovulation
What are the developmental landmarks that occur in week 2 of fetal development?
Development of the bilaminar disk (epiblast, hypoblast)
What are the fetal landmarks associated with week 3 of fetal development?
Gastrulation occurs. Primitive streak, notochord, and neural plate begin to form.
Epiblast invaginates to form primitive streak, primitive streak turns into mesoderm and endoderm.
What are the fetal landmarks associated with week 4 of fetal development?
Heart begins to beat, and 4 limb buds form
What processes occur during the embryonic period (3-8 weeks)?
Organogenesis, and closing of the neural tube. Teratogens are extremely harmful during this period.
What is the difference between the the alar plate and the basal plate?
Alar plate is located on the dorsal part of the neural tube and develops into sensory neurons.
Basal plate is ventral and becomes motor neurons.
What are the three sublayers of ectoderm?
Surface ectoderm, neuroectoderm, and neural crest
What develops from the surface ectoderm?
Adenohypophysis, lens, lining of oral cavity, inner ear, retina, olfactory epithelium, epidermis, salivary, sweat and mammary glands.
What develops from the neuroectoderm?
Brain, retina and spinal cord
What develops from the neural crest?
Peripheral Nervous System and non-neural structures nearby (ANS, odontoblasts dorsal root ganglia, cranial nerves, celiac ganglion, melanocytes, chromaffin cells, schwann cells, etc).
What develops from the endoderm?
Gut tube epithelium and derivatives (lungs, liver, pancreas, thymus, parathyroid, thyroid follicular cells, etc).
What develops from the mesoderm?
Muscle, bone, connective tissue, serous linings of the body cavities, spleen, cardiostructures, blood, lymphatics, kidneys, adrenals.
What are the main mesodermal defects seen in fetal development?
VACTERL
Vertebral, Anal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects
Describe the type of effects teratogens can have on a fetus depending on when they are introduced (ie, before 3 wks, btwn 3-8 wks, after 8 wks)
Before 3 weeks: all or none effects
3-8 wks: altered organogenesis,
after 8 weeks - growth and function affected
What are the teratogenic effects of ACE inhibitors?
Renal damage
What are the teratogenic effects of alcohol?
Leading cause of birth defects and mental retardation; fetal alcohol syndrome
What are the teratogenic effects of alkylating agents?
Absence of digits, multiple anomalies.
What are the teratogenic effects of aminoglycosides?
CN VIII toxicity
What are the teratogenic effects of cocaine?
Abnormal fetal development/fetal addiction and placental abruption
What are the teratogenic effects of DES?
Vaginal clear cell adenocarcinoma.
What are the teratogenic effects of folate antagonists?
Neural tube defects
What are the teratogenic effects of Iodide?
Congenital goiter or hypothyroidism
What are the teratogenic effects of Lithium?
Ebstein's anomaly (atrialized right ventricle)
What are the teratogenic effects of maternal diabetes?
Caudal regression syndrome (anal atresia to sirenomelia).
What are the teratogenic effects of smoking?
preterm labor, placental problems, IUGR, ADHD
What are the teratogenic effects of tetracyclines?
Discolored teeth
What are the teratogenic effects of Thalidomide?
Limb defects
What are the teratogenic effects of valproate?
Inhibition of intestinal folate absorption
What are the teratogenic effects of Vitamin A excess?
Spontaneous abortions and birth defects
What are the teratogenic effects of Warfarin?
Bone deformities, fetal hemorrhage, abortion
What are the teratogenic effects of X-rays and anticonvulsants?
multiple anomalies
Fetal alcohol syndrome is the leading cause of congenital malformations in the US. what are some associated malformations and what is the mechanism?
Developmental retardation, microcephaly, holoprosencephaly, facial abnormalities, limb dislocation, heart and lung fistulas, are probably caused by inhibition of cell migration
If twins split before Day 3 of fetal development, how many chorion and amnion will be present?
If twins split before 3 days, there will be 2 chorion, 2 amnion, and possibly 2 placenta
If twins split between day 3 and day 8 of fetal development, how many chorion and amnion will be present?
There will be 1 chorion, and 2 amnion
If twins split after Day 8 of fetal development, how many chorion and amnion will be present?
1 chorion, and 1 amnion.
Day 3 chorion is established
Day 8 amnion is established.
What are the fetal components of the placenta, and what do they do?
Cytotrophoblast is the inner layer of chorionic villi, and it differentiates into other forms of trophoblastic tissue.

Syncytiotrophoblast - outer layer of chorionic villi, secretes hCG.
What is the maternal component of placenta and what does it do?
Decidua basalis - derived from endometrium and has maternal blood in lacunae.
Name the blood vessels in the umbilical cord.
There are 2 umbilical arteries which return deoxy fetal blood to placenta.

There is one umbilical vein that supplies oxy blood from placenta to fetus.
What are other components of the umbilical cord?
Urachal duct - develops from the allantois/yolk sac at week 3, and goes from bladder to yolk sac.
Wharton's jelly and amniotic epithelium bind all the umbilical components together.
What are the abnormalities that can affect the urachal duct?
Patent urachus - urine out the bellybutton
Vesicourachal diverticulum - outpouching of bladder.
What is the vitelline duct, and what are some of its associated abnormalities?
Vitelline duct connects the yolk sac to the midgut week, and is obliterated @ 7th wk.
Vitelline fistula - failure of the duct to close @ 7 wks, and meconium is discharged from umbilicus.
Truncus arteriosus develops into what structures in a grown adult?
Ascending aorta and pulmonary trunk
Bulbus cordis develops into what structure in a grown adult?
Right ventricle and smooth parts of left and right ventricles.
Primitive ventricle develops into what structure in a grown adult?
A portion of the left ventricle
Primitive atria develop into what structure in a grown adult?
Trabeculated left and right atria
Left horn of sinus venosus develops into what structure in a grown adult?
Coronary sinus
Right horn of sinus venosus develops into what structure in a grown adult?
Smooth part of right atrium
The right common and anterior cardinal veins develop into what structure in a grown adult?
superior vena cava
Describe the development of the truncus arteriosus, and name some common abnormalities that can happen.
Neural crest migration divides the trunk into 2 arteries via fusion and twisting of truncal and bulbar ridges, eventually becoming the ascending aorta and pulmonary trunk.
Common abnormalities include transposition of great vessels and tetralogy of fallot
Describe how the truncus arteriosus is divided into the aortic and pulmonary trunks.
The aorticopulmonary septum develops in the truncus arteriosus and spirals downwards, joining the muscular ventricular septum and closing the interventricular septum
Describe the steps of interatrial septum development.
1. Foramen primum narrows as septum primum grows towards endocardial cushions.
2. Perforations in septum primum form foramen secundum.
3. Foramen secundum maintains right to left shunt as septum secundum grows down from the top of the heart.
4. Septum secundum contains a permanent opening (foramen ovale)
5. Foramen secundum enlarges and upper part of septum primum degenerates.
6. Remaining part of foramen primum turns into valve of foramen ovale
Where does fetal erythropoesis occur throughout the course of fetal development?
1. Yolk sac 3-8 wks
2. Liver 6-30 wks
3. Spleen 9-28 wks
4. Bone marrow from 28 wks on.
(Young Liver Synthesizes Blood)
What is the O2 sat of the blood in the umbilical vein?
80%-- umbilical arteries have low O2 sat.
What/where are the 3 important shunts of fetal circulation?
1. Ductus venosus - shunts from umbilical vein to IVC
2. Foramen ovale - shunts blood from IVC across atria to aorta
3. Ductus arteriosus - Deoxy blood is shunted from pulmonary artery to descending aorta
What happens to the cardiovasculature when the baby takes its first breath at birth?
Breath creates negative pressure in pulmonary vasculature. Right atrial pressure drops and foramen ovale closes.
Rise in O2 causes decrease in PDA-opening prostaglandins. (Indomethacin can also be used to help close PDA).
What post-natal structure arises from the umbilical vein?
ligamentum teres hepatis (contained in falciform ligament)
What post-natal structure arises from the umbilical arteries?
medial umbilical ligaments
What post-natal structure arises from the ductus arteriosus?
ligamentum arteriosum
What post-natal structure arises from the ductus venosus?
ligamentum venosum
What post-natal structure arises from the foramen ovale?
fossa ovalis
What post-natal structure arises from the allantois?
urachus/ median umbilical ligament
What post-natal structure arises from the notochord?
nucleus pulposus of intervertebral disk.
Name the aortic arch derivatives.
1. first part of maxillary artery
2. stapedial and hyoid arteries
3. common carotid artery and proximal part of ICA.
4. on left, aortic arch. on right, proximal right subclavian artery
6. proximal part of pulmonary arteries and ductus arteriosus
The fetal brain starts as prosencephalon, mesencephalon, and rhombencephalon. Describe how these regions develop into the adult brain.
Prosencephalon:
Telencephalon - cerebral hemispheres
Diencephalon - thalami

Mesencephalon - midbrain

Rhombencephalon:
Metencephalon - pons,cerebell
Myelencephalon - Medulla
What are the common neural tube defects and what are their presentations?

what substances are elevated and where?
Neuropores unfused - fistula btwn amniotic cavity and spinal canal. Elevated AFP and acetylcholinesterase in CSF.
Spina bifida oculta - failure of spinal canal to close. usu @ lower vertebra. Dura is intact.
Meningocele - meninges herniate through spinal canal defect.
Myelomeningocele - meninges and spinal cord herniate through spinal canal defect
What are some common forebrain anomalies and their presentations?
Anencephaly - anterior end of neural tube is messed up. No brain/calvarium, elevated AFP.

Holoprosencephaly - hemispheres are fused together, cyclopia, Patau's syndrome, FAS and cleft lip
What are the posterior fossa malformations and what are their presentations?
Arnold-Chiari II - cerebellar tonsil herniation through foramen magnum w/ aqueductal stenosis and hydrocephalus.
Dandy-Walker - large posterior fossa and absent cerebellar vermis w/ enlargement of 4th ventricle. Can lead to hydrocephalus and spina bfida
What is syringomyelia and what are its symptoms?
Syringomyelia is an enlargement of the central canal of spinal cord. Spinothalamic tract is damaged first. "Cape like" bilateral loss of pain and temperature in upper extremities, whereas touch is preserved
Which germ cell layers give rise to branchial clefts, arches and pouches?
Branchial clefts - ectoderm
Branchial arches - mesoderm and neural crests
Branchial pouches - endoderm
Describe the function and innervation of each branchial arch.
Arch 1 - chewing, CN V2 and V3
Arch 2 - facial expression, VII
Arch 3 - stylopharyngeus, IX
Arch 4 - swallowing, X
Arch 6 - speaking, X
What do the branchial clefts develop into?
1st cleft develops into external auditory meatus
2nd-4th clefts become temporary cervical sinuses (which are eventually obliterated by 2nd arch mesenchyme)
What do the branchial pouches develop into?
1st pouch - middle ear cavity, eustachian tube, mastoid cells
2nd pouch - epithelial lining of palatine tonsil
3rd pouch - inferior parathyroids and thymus
4th pouch - superior parathyroids

Note: 3rd pouch structures end up BELOW 4th pouch structures
What are some diseases that can arise from malfunction of the branchial pouches?
DiGeorge Syndrome - aberrant development of 3rd and 4th pouches causes T-cell deficiency and hypocalcemia.

MEN2A mutation of RET neural cells causes tumors:
Adrenal Medulla (pheochromocytoma)
Parathyroid - 3rd/4th pouch
Parafollicular cells - 4th/5th
In terms of ear development, what arises from the 1st arch?
Malleus/incus bones, and tensor tympani (innervated by V3)
In terms of ear development, what arises from the 2nd arch?
Stapes bone, Stapedius (VII)
In terms of ear development, what arises from the 1st cleft?
external auditory meatus
In terms of ear development, what arises from the 1st branchial membrane?
tympanic membrane
In terms of ear development, what arises from the 1st pouch?
Eustachian tube, middle ear cavity, mastoid air cells
In terms of tongue development, what arises from the 1st branchial arch?
anterior 2/3rds of tongue (sensation via V3, taste via CN VII)
Motor innervation of tongue is XII
In terms of tongue development, what arises from the 3rd and 4th arches?
posterior 1/3rd (sensation and taste via CN IX, and X on the very back end of tongue)
What is the thyroglossal duct and what is its relevance to a fully developed adult?
Foramen cecum is normal remnant of thyroglossal duct.
A thyroglossal duct cyst is on midline and will move w/ swallowing.
What is the difference between cleft lip and cleft palate?
Cleft lip - failure of fusion of the maxillary and medial nasal processes (primary palate)

Cleft palate - failure of fusion of the lateral palatine, nasal septum and median palatine process (secondary palate)
What are the components that make up the diaphragm?
Several Parts Build Diaphragm.
1. Septum transversum --> central tendon
2. Pleuroperitoneal folds
3. Body wall
4. Dorsal mesentary of esophagus (crura)

Innervated by C3, 4, and 5.
Describe which structures arise from the foregut, midgut, and hindgut.
Foregut - pharynx to duodenum
Midgut - duodenum to trans colon
Hindgut - trans colon to rectum.
Describe some of the typical developmental defects caused by failure of:
- rostral fold closure
- lateral fold closure
- caudal fold closure
Rostral fold closure - sternal defects
Lateral fold closure - omphalocele, gastroschisis
Caudal fold closure - bladder exstrophy
What is the cause of duodenal atresia?
failure to recanalize, usually due to trisomy 21
What is the cause of jejunal, ileal, colonic atresia?
usually due to vascular accidents (apple peel atresia), which cause ischemia to developing parts of the bowel
What happens between 6th and 10th weeks with regards to GI development?
at 6th week, midgut herniates through umbilical ring and grows rapidly. At 10th week, midgut returns to abdominal cavity and rotates around SMA.
What is a tracheoesophageal fistula?
An abnormal connection between esophagus and trachea. Usually involves a blind upper esophagus with lower esophagus connected to trachea. Causes cyanosis, choking and vomiting.
What are the symptoms of congenital pyloric stenosis and what is its etiology?

what types of pt are most suspectible?
Hypertrophy of the pylorus causes obstruction. Results in palpable epigastric mass and nonbilious projectile vomiting. Usually in 1st born males, happens 1/600 births.
Describe the embryology of pancreatic development and some common problems that can occur.
Pancreas is derived from the foregut. Ventral pancreatic bud becomes pancreatic head and main pancreatic duct. Dorsal pancreatic bud becomes everything else.

Annular pancreas - ventral pancreatic bud circles 2nd part of duodenum and constricts it
Pancreas divisum - ventral and dorsal parts don't fuse @ 8 wks
What gives rise to the spleen and what is the spleen's blood supply?
The dorsal mesentary (mesoderm) gives rise to the spleen and it is supplied by the celiac artery (artery of the foregut)
What are the stages of embryologic kidney development?
1. Pronephros - week 4, then degenerates
2. Mesonephros - interim kidney for 1st trimester, later contributes to male genitals
3. Metanephros - permanent. develops from 5-36 wks. Ureteric bud - ureter, pelvises, canalized by 10th wk
Mesenchyme - interacts w bud and induces formation of glomerulus and tubules.
What is the most common site of kidney obstruction in a fetus? (hydronephrosis)
Uteropelvic junction with kidney is the last to canalize and the most common site of obstruction.
Describe the pathogenesis and symptoms of Potter's syndrome.
Renal agenesis --> oligohydramnios --> limb and face deformities, pulmonary hypoplasia
Caused by malformation of ureteric bud
Describe the pathogenesis and symptoms of horseshoe kidney.
Inferior poles of both kidneys fuse and get trapped under inferior mesenteric artery. So they are low in abdomen but function normally
Describe the process of female genital embryology and the fate of the mesonephric duct.
Mesonephric duct degenerates (it must be induced to remain), and paramesonephric duct develops into female genitals.
Describe the embryology of male genitals, particularly the impact of sertoli and leydig cells.
SRY gene codes for testis determining factor.

Sertolli cells - secrete mullerian inhibiting factor, which inhibits development of paramesonephrics

Leydig cells - increase androgens develops mesonephric ducts
Which genital structures does the mesonephric duct develop into?
Seminal vesicles, Epididymis, Ejaculatory duct, and Ductus Deferens
What genital structures arise from the Paramesonephric duct?
Develops into fallopian tube, uterus, and upper 1/3 of vagina.
What is a bicornuate uterus and what are its implications?
Bicornuate uterus is a "heart shaped" uterus resulting from incomplete fusion of the paramesonephric ducts. It is associated with urinary tract abnormalities and infertility.
What does the genital tubercle give rise to when exposed to DHT vs when exposed to estrogen?
DHT - glans penis, corpus cavernosum and spongiosum
Estrogen - Glans clitoris and vestibular bulbs
What does the urogenital sinus give rise to when exposed to DHT and when exposed to estrogen?
DHT - bulbourethral glands and prostate gland
Estrogen - Greater vestibular, urtehral, and paraurethral glands.
What does the urogenital folds give rise to when exposed to DHT and when exposed to estrogen?
DHT - ventral shaft of penis
Estrogen - Labia minora
What does the labioscrotal swelling give rise to when exposed to DHT and when exposed to estrogen?
DHT - scrotum
Estrogen - labia majora
What are hypospadias and epispadias, and which one occurs more frequently?
Hypospadia is when the urethra opens on the inferior side of the penis, because urethral folds fail to close. Risk of UTIs
Epispadias - urethra opens on dorsal penis due to faulty positioning of genital tubercle. Risk of exstrophy of bladder.

Hypospadias is more common.
Which cartilage, muscles, nerves, arteries, and abnormalities are derived from branchial arch 1?
Cartilage - Mandible, Malleus, Mandibular ligament
Muscles - Muscles of mastication, mylohyoid, anterior belly of digastric, tensor tympani, tensor veli palatini, ant 2/3rds of tongue.
Nerves - CN V2 and V3
Arteries - Maxillary
Disease - Treacher Collins Syndrome --> mandibular hypoplasia and facial abnormalities.
Which cartilage, muscles, nerves, arteries, and abnormalities are derived from branchial arch 2?
Cartilage - stapes, styloid process, lesser horn of hyoid, stylohyoid ligament
Muscles - muscles of facial expression, stapedius, stylohyoid, posterior belly of digastric
Nerves - CN VII
Artery - Stapedial artery, hyoid artery
Which cartilage, muscles, nerves, arteries, and abnormalities are derived from branchial arch 3?
Cartilage - greater horn of hyoid
Muscle - stylopharyngeus
Nerves - CN IX
Diseases - pharyngocutaneous fistula links tonsils and the lateral neck cleft
Which cartilage, muscles, nerves, arteries, and abnormalities are derived from branchial arch 4-6?
Cartilage - thyroid, cricoid, arytenoids, corniculate, cuneiform
Muscles from 4 - pharyngeal constrictors, cricothyroid, levator veli palatini
Muscles from 6 - all intrinsic muscles of larynx except cricothyroid
Arches 3 and 4 form the posterior 1/3 of tongue.

Nerves from 4 - CN X, superior laryngeal branch (swallowing)
Nerves from 6 - CN X, recurrent laryngeal branch (speaking)
What does the notochord become in adults?
nucleus pulposus of the intervertebral disk
2nd week
a. how many germ layers
b. how many cavities
c. how many components to the placenta
Rule of 2's
a. 2 germ layers - epiblast and hypoblast
b. 2 cavities - amniotic cavity and yolk sac
c. 2 components to the placenta - cytotrophoblast, syncytiotrophoblast
Epiblast

part of what structure?

what does it give rise to?
bilaminar disk

ectoderm
Invagination of epiblast forms what?

this gives rise to what layers?
primitive streak

mesoderm and part of the endoderm
3rd week

how many germ layers
Rule of 3

3rd week = 3 layers
ectoderm, mesoderm, endoderm
When do you first see four heart chambers and four limb buds?
Fourth week (rule of 4)
Types of errors in organ morphogenesis

Malformation
Intrinsic disruption occurring in embryonic period (wks 3-8)
Types of errors in organ morphogenesis

Deformation
Extrinsic disruption, occurs after embryonic period
Types of errors in organ morphogenesis

Agenesis
Absent organ due to absent primordial tissue
Types of errors in organ morphogenesis

Hypoplasia
Primordial tissue present, but incomplete organ development
Types of errors in organ morphogenesis

Aplasia
Primordial tissue present, but absent organ