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98 Cards in this Set
- Front
- Back
What are 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 |
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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 |
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When does hCG secretion begin? from where?
when does the fetal period begin |
within first week of blastocyst implantation by syncytioblasts of placenta
Week 9 |
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what are the alar plate and basal plate
|
have the same orientation as the spinal cord
alar: dorsal = sensory basal: ventral = motor |
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what is a craniopharyngioma
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benign Rathke's pouch tumor w/cholesterol crystals, calcification
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what is the nucleus pulposus derived from?
where is aorticopulmonary septum derived from? |
notochord
neural crest cells |
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what are mesodermal defects
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VACTERL
Vertebral defects Anal atresia Cardiac defects Tracheo-Esophageal fistula Renal defects Limb defects (bone and muscle) |
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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) |
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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 |
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what drug causes discolored teeth in the fetus
what effect does valproate cause on the fetus |
tetracyclines
Valproate inhibits intestinal folate absorption |
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what drug causes CN VIII toxicity in the fetus
what effect do alkylating agents have on the fetus |
aminoglycosides
absence of digits, multiple anomalies |
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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 |
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what is the decidua basalis
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maternal component of the placenta
derived from endometrium maternal blood in the lacunae |
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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 |
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where are the umbilical arteries and vein derived from
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from the allantois
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what does a single umbilical artery mean
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is assoc w/congenital and chromosomal anomalies
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allantois
When is it formed? From what is it formed? What does it become? |
yolk sac forms allantois in 3rd week, it extends into urogenital sinus
allantois becomes urachus, a duct b/w bladder and yolk sac |
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urachus
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duct b/w bladder and yolk sac
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what happens if the urachus fails to obliterate
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1. patent urachus: urine discharge from umbilicus
2. vesicourachal diverticulum: outpouching of bladder |
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what is the vitelline duct
When does the vitelline duct close? What happens if the vitelline duct fail to close? What happens if vitelline duct closes only partially? |
connects yolk sac to midgut lumen
7th week Vitelline fistula: meconium discharge from umbilicus Meckels diverticulum |
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what is the coronary sinus derived from
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left horn of the sinus venosus
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what is the smooth part of the right atrium derived from
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Right horn of the sinus venosus
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what is the progression of where fetal erythropoiesis happens
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Yolk sac (3-8 wk)
Liver (6-30 wk) Spleen (9-28) Bone marrow (28 wk onward) "Young Liver Synthesizes Blood" |
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what is the postnatal derivative of the umbilical arteries
of the allantois/urachus |
mediaL umbilical ligaments (umbiLical)
mediaN umbilical ligaments (allaNtois/urachus) |
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in what adult ligament is the ligamentum teres contained in
what is the ligamentum teres a postnatal derivative of |
falciform ligament
the umbilical vein |
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what are the 1st and 2nd aortic arch derivatives
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1- part of Maxillary artery (first arch is MAXimal)
2- Stapedial artery and hyoid artery (Second = Stapedial) |
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what are the 3rd and 4th aortic arch derivates
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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 |
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what is the 6th aortic arch derivative
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proximal part of the pulmonary arteries
on L only, ductus arteriosus 6th arch = pulmonary and the pulmonary-systemic shunt (ductus arteriosus) |
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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 |
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in what situation does anencephaly occur?
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malformation of anterior end of neural tube
associated with no brain/calvarium, elevated AFP, and polyhydramnios (due to no swallowing center in the brain) |
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what is Holoprosencephaly
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decreased separation of hemispheres across midline -> cyclopia
assoc w/Patau's syndrome, severe fetal alcohol syndrome, cleft lip/palate |
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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 |
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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 |
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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 |
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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) |
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what is Treacher Collins syndrome
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1st arch neural crest fails to migrate -> mandibular hypoplasia, facial abnormalities
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what is the mutation in MEN2A
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germline RET (neural crest cells)
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what does the 1st branchial cleft develop into
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the external auditory meatus
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what do the 2nd and 4th branchial clefts develop into
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form temporary cervical sinuses but are obliterated by proliferation of the 2nd branchial arch mesenchyme
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what does the 1st branchial pouch develop into
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middle ear cavity, eustachian tube, mastoid air cells
contributes to endoderm-lined structures of ear |
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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 |
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what branchial aches form the ant 2/3 and post 1/3 of the tongue
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ant 2/3: 1st arch
post 1/3: 3rd and 4th arches |
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what is the foramen cecum
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normal remnant of the thyroglossal duct
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what is the most common ectopic thyroid tissue site?
mechanism? |
the tongue (linguial thyroid gland)
failure of migration of thyroid gland if removed, hypothyroidism |
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what causes a cleft lip
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failure of fusion of maxillary and medial nasal processes
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what causes a cleft palate
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failure of fusion of lateral palatine processes, nasal septum +/or medial palatine process
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what is the diaphragm derived from
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Septum transversum -> central tendon
Pleuroperitoneal folds Body wall Dorsal mesentery of esophagus- > crura "Several Parts Build Diaphragm" |
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what causes bladder exstrophy
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failure of caudal body fold closure in abdominal wall
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what is gastroschsis? What causes it?
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failure of lateral body folds to fuse -> extrusion of ab contents thru ab folds (not covered in peritoneum)
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what is omphalocele
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persistence of herniation of ab contents into umbilical cord, covered by peritoneum
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what is the difference b/w gastroschisis and omphalocele
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gastroschisis is not usually covered by peritoneum and is not usually in midline, unlike omphalocele
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what is an apple peel atresia
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jejunal, ileal, colonic atresia due to vascular accident
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what time during gestation do the intestines return to the ab cavity and rotate around SMA
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10th week
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around what artery do fetal intestines rotate around
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SMA
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what does failure of rostral body fold closure (of the anterior abdominal wall) cause?
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sternal defects
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what are the signs of a tracheo-esophageal fistula
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cyanosis, choking and vomiting w/feeding, air bubble on CXR, polyhydramnios
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what causes a palpable "olive mass" in epigastric region and nonbilious projectile vomiting at ~ 2 weeks of age
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congenital pyloric stenosis
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what causes congenital pyloric stenosis
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hypertrophy of the pylorus causes obstruction
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the GI foregut gives rise to what
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pharynx to duodenum
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what does the ventral pancreatic bud give rise to
what does the dorsal pancreatic bud give rise to |
ventral: unicate process (lower half of head)
dorsal: body, tail, isthmus, accessory pancreatic duct ventral + dorsal: head, main pancreatic duct. |
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what is pancreas divisum?
risk for what later in life? |
ventral and dorsal buds fail to fuse at 8 weeks
risk factor for acute or recurrent pancreatitis |
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annular pancreas
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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 |
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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 |
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what is the most common site of urinary obstruction in the fetus
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uteropelvic junction w/kidney
because its last to canalize it predisposes to hydronephrosis |
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what does ureteric bud give rise to?
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Ureter, Renal Pelvises, Calyces, collecting duct
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What does the metanephric mesenchyme give rise to
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glomerulus, proximal tubules, loop of henle, distal tubule
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What are the findings in Potter's Syndrome?
what causes Potter's syndrome |
bilateral renal agenesis -> oligohydramnios -> limb deformities, facial deofrmities, pulmonary hypoplasia
caused by malformation of ureteric buc |
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under what artery do horseshoe kidneys get trapped
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IMA
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what does the SRY gene on the Y chromosome code for
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testis determining factor
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what secretes Mullerian inhibiting factor/substance
what does it do |
sertoli cells
suppresses development of paramesonephric ducts |
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what does the mesonephric duct develop into
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male internal structures
SEED Seminal vesicle, Ejaculatory Duct Epididymis, Ductus deferens |
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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 |
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what causes hypospadias?
increases risk for what? |
failure of urethral folds to close
increases the risk of UTI |
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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) |
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what congenital penile abnormality is exstrophy of the bladder assoc w/
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epispadias
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what is a complication of hypospadia (why does it need to be fixed)
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to prevent UTIs
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What does the genital tubercle give rise to
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In men: glans and corpus cavernosum and spongiosum
In women: clitoris and vestibular bulbs |
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Whats does the urogenital sinus give rise to:
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Men: bulbourethral glands of cowper, prostate gland
Women: greater vestibular glands of bartholin, urethral and paraurethral glands of skene. |
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what do the urogenital folds develop into
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male: ventral shaft of penis (penile urethra)
female: labia minora |
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what does the labioscrotal swelling develop into
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male: scrotum
female: labia majora |
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iodide (lack or excess) causes what congenital deformity?
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congenital goiter or hypothyroidism
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Thalidomide causes what congenital deformity?
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Limb defects ("flipper" limbs)
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Vitamin A (excess) causes what congenital deformity?
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extremely high risk for spontaneous abortions and birth defects (cleft palate, cardiac abnormalities)
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Describe the timeline of monozygotic timeline in terms of chorion and aminion.
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0-72 hrs: dichorionic, diamniotic
4-8 days: monochorionic, diaminiotic 8-13 days: monochorionic, monoamniotic 13 + days: conjoined twins |
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Dichorionic twin
is it monozygotic or dizygotic? |
can be both
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What 2 hormones are secreted by syncytiotrophoblast?
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hCG and HPL
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what is the function of HPL?
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stmulates IGF -> lipolysis and gluconeogenesis
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When does hCG level peak during pregnancy?
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week 10
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Truncus arteriosus develops into what 2 structures?
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ascending aorta and pulmonary trunk
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bulbus cordis develops into what structure?
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right ventricle and smooth parts (outflow tract) of left and right ventricle
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superior vena cava developed from what 2 structures?
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right common cardinal vein and right anterior cardinal vein
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failure of neural crest migration to form aorticopulmonary septum.
What 2 pathologies? |
transposition of great vessels
tetralogy of Fallot |
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what forms the membranous interventricular septum?
|
aorticopulmonary septum
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what forms the opening of foramen ovale?
what forms the valve of foramen ovale? |
opening: septum secundum
valve: septum primum |
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Describe how the ear ossicles are derived from. How are they innervated?
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1st branchial arch: Malleus/incus, innervated by tensor tyMpani (V3)
2nd arch: Stapes; innervated by Stapedius (VII) |
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Meckel's cartilage
what is its derivation? what are derived form it? |
Branchial arch 1 derivation
includes Mandible, Malleus, inclus, spheno-Mandibular ligament |
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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 |
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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 |