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77 Cards in this Set
- Front
- Back
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sonic hedgehog gene
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at base of limbs in zone of polarizing activity --> involved in patterning along AP axis
mediated extodermal dysfunction - holoproschepaly |
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wnt-7 gene
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produced at apical ectodermal ridge - thickened ectoderm at distal end of each developing limb
necessary for proper organization along dorsal-ventral axis |
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FGF gene
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at apical ectodermal ridge
stimulates mitosis of underlying mesoderm, providing lengthening of limbs |
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homeobox gene
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segmental organization of embryo in craniocuadal direction
hex mutation = appendages in wrong location code for DNA binding transcription factors |
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week 3-8 embryonic period
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neural tube formed by neuroectoderm and closes by week 4
organogenesis extremely susceptible to teratogens |
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week 4
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heart begins to beat
upper and lower limb buds begin to form |
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week 10
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male/female genitali
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neural crest cell derivatives
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ANS
dorsal root ganglia cranial nerves celiac ganglion melanocytes chromaffine cells of adrenal medulla enterochromaffin cells parafollicular C cells of thyroid Schwann cells pia and arachnoid bones of the skull odontoblasts laryngeal cartilage aorticopulmonary septum |
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malformation
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intrinsic disruption, occurs during embryonic period - 3-8 weeks
holoencephaly |
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deformation
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extrinsic disruption, occurs after embryonic period - potter
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agenesis
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absent organ due to absent primordial tissue
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hypoplasia
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absent organ due to absent primordial tissue
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hypoplasia
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incomplete organ development - primordial tissue present
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aplasia
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absent organ despite primordial tissue presence
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ace inhibitor
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renal damage from and 2 block
fetal anuria, oligohydramnios, limb contractures, growth retardation, calcarium defects? |
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alcohol
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leading cause of birth defects and MR, fetal alcohol syndrome, cleft lip
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alkylating agents
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absence of digits, multiple anomolies
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aminoglycosides
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CN 8 toxicity
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cocaine
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abnormal fetal development and fetal addiction, placental abruption
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diethylstilbestrol
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vaginal clear cell adenocarinoma
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folate antagonists
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neural tube defects
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iodine - lack or excess
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congenital goiter or hypothyroidism
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lithium
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ebstein's anomaly (atrialized right ventricle)
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maternal diabetes
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cuadal regression syndrome (sacral agenosis - lower extremity paralysis + urinary incontinence) anal atresia to sirenomelia
congenital heart defects, neural tube defects infant has transient hypoglycemia after delivery and macrosomia because of increase fetal pancreatic secretion of insulin |
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smoking - nicotine, CO
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preterm labor, placental problems, IUGR, ADHD
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tetracycline
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discolored teeth + bone deposition
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thalidomide
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limb defects - flipper limbs
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valproate + carbamazapine
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inhibition of intestinal folate absorption = neural tube defects
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vitamin A excess
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high risk for spontaneous abortions and birth defects - cleft palate, cardiac abnormalities) alters hox gene expression
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warfarin
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bone deformities, fetal hemorrhage, abortion
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X-rays
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microencephalopathy
retardation |
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anticonvulsants
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multiple anaomolies
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carbamazepine
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neural tube defects
fingernail hypoplasia developmental delay IUGR |
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phenytoin
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fetal hydation syndrome - microencephalopathy, dysmorphic carniofacial factors, hypoplastic nails, distal phalges, cardiac defects, IUGR, metal retardation
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sulfonamides
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kernicterus
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fluoroquinolones
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cartilage damage
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erythromyocin
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can give u acute cholestatic hepatitis
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metronidazole
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mutagenesis - avoid in 1st trimester ok in 2nd/3rd
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chloramphenicol
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gray baby
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ribavirin and griseofulvin
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teratogenic
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fetal alcohol syndrome effects
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inhibition of cell migration --> song abnormalities, like pre postnatal developmental retardation, microcephaly, holoprosencephaly, facial abnormalities, limb dislocation, heart/lung fistulas
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what does a single umbilical artery mean?
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associated with congenital and chromosomal anaomlie
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where are umbilical arteries and veins derives from?
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allantois
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what does the allanois become?
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urachus - duct between bladder and yolk sac
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what happens if urachus fails to obliterate?
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patent urachus = urine discharge from umbilicus
veicourachal diverticulum = out pouching of bladder |
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what happens if vitelline duct - (omphalomesenteric duct - connects yolk sac to midgut lumen) fails to obliterate in 7th week?
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vitelline fistula = failure of duct of close --> meconium discharge from umbilicus
example = meckel's true diverticulum - partial closure, with patent portion attached to ileum - may have ectopic gastric mucosa --> melana and periumbilical pain |
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bulbus cordis gives rise to?
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right ventricle and smooth parts (outflow) of left and right ventricle
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primitive ventricle?
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portion of left ventricle
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primitive atria
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trabeculated left and rich atrium
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left horn of sinus venousum
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coronary sinus!!
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right horn of sinus venosus
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smooth part of right atrium
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right common cardinal vein and right anterior cardinal vein
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SVC
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where does fetal erythropoeisis occur and when?
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yolk sac 3-8 weeks
liver 6-30weeks spleen 9-28 weeks bone marrow 28 week onward = vertebra, ribs, sternum, cranial bones, pelvis, tibia/femur (up to age 25) |
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what is ductus venosus
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allow from entering to fetus in umbilical vein to go from IVC and bypass hepatic circulation
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how does foramen ovale close?
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infant takes a break, decrease resistance in plum vasculature, increase left atrial pressure, foramen oval closes
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how does PDA close?
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incrase o2 leads to decrease prostaglandins = closed
indomethacin = close PDA prostaglandin E2 = keep PDA open |
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anencephaly
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malformation of anterior end of neural tube - no brain/calvarium, elevated AFP, polyhydraminos (no swallowing center in brain)
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holoprosencephaly
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defectic sonic hedgehog gene, decrease separation of hemispheres across midline, results in cyclopean - associated with patau's syndrome, severe fetal alcohol syndrome, cleft lip/palate
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dandy walker
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larger posterior fossa, absent cerebellar vermis with cystic enlargement of 4th ventricle - can lead to hydrocephalus and spin bifida
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failure of rostral fold closure
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sternal defects
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failure of lateral fold closure
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omphalocele = persistence of herniation of abdominal contents into umbilical cord, covered by peritoneum
inc AFP in both gastrochisis = extrusion of abdominal contents through abdominal folds |
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failure of caudal fold closure
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bladder exstrophy
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duodenal atresia
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failure to reanalyze - trisomy 21
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jejunal ileal colonic artresia
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due to vascular accident = apple peel atresia
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what pathology can happen in 10th week of GI formation?
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return to ab cavity and rotate around SMA --> intestinal obstruction, twisting around SMA (volvulus)
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congenital pyloric stenosis
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hypertrophy of pylorus causes obstruction
palpable olive mass in epiastric region and nonbilious projectile vomiting at 2 weeks of age tx = surgical incision often 1st born males |
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imperforate anus
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can't pass meconium
usually have other congenital malformations too like urogenital tract anaomolies |
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ventral pancreatic duct becomes?
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uncinate process - lower half of head and main pancreatic duct
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dorsal pancreatic bud becomes?
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everything else - body, tail, isthmus, accessory pancreatic duct and superior aspect of head of pancreas
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annular pancreas
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ventral pancreatic bud abnormally encirucles 2nd part of duodenum - forms a ring of pancreatic tissue causing duodenal narrowing
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pancreas divism
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ventral and dorsal parts fail to fuse at 8 weeks
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spleen
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arises from dorsal mesentery - mesodermal but it's supplies from after of foregut - celiac artery
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uretric bud gives rise to?
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drainage system of kidney = ureter, pelvises, branching calyces and CDs
aberrant development of ureteric bud = congenital malformation of lower urinary tract |
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metanephric msenchyme gives rise to?
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main functioning unit of kidney = glomerulus and renal tubules to DCT
arises from ureteric bud interaction with this tissue |
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uteropelvic junction with kidney
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last to canalize = most common site of obstruction (hydronephrosis) in fetus
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POTTER SYNDROME
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bilteral renal agenesis --> oligohydroamnios --> limb deformities, facial deformities, pulmonary hypoplasia - cause by malformation of ureteric bud
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bicornuate uterus
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incomplete fusion of paramesonephric ducts --> urinary tract abnormalities and infertility
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