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Terms in this set (86)
germ cells migrate from ? to ovary
spermatogenesis starts at ?
When does aneuploidy usually occur
nondisjunction in meiosis I in females
what will be some indicators of trisomy 21 in a mother?
decreased alpha fetoprotein
? detected in amniotic fluid and maternal serum signifies opening
increase in alpha fetoprotein
which SB has a hair tuft usually
spina bifida occulta
anencephaly and encephalocele form from failure of ?
cranial neuropores to close
in spina bifida, what fails to form correctly?
arch of vertebrae - sclerotome cells (paraxial mesoderm)
What makes up the annulus fibrosis and what makes up the nucelus pulpsosus
cells from caudal portion of each sclerotome contributes to the annulus fibrosus of intervertebral disk
bone develops from ?
lateral plate mesoderm
Upper limbs rotate 90 degrees in what direction ?
what about lower limbs?
upper rotate laterally
lower rotate medially
premature fusion of cranial sutures
What is scaphocephaly
immature fusion of sagittal suture - so head will be elongated
what is brachycephaly
immature fusion of coronal suture - head will be larger in back and shorter
What happens if you have problems with 3rd and 4th phar pouches?
decrease in PTH -- hypoparathyroidism
decrease in calcium -- hypocalcemia
cleft lip occurs when the ? fails to fuse with the ?
medial nasal prominence doesnt fuse with mxillary prominence MnM
anterior cleft palate results from failure of ? of the maxillary prominence failing to fuse with the ?
lateral palatine processes with primary palate
posterior cleft palate results from ? of maxillary pominence failing to fuse with another and the ?
lateral palatine process and nasal septum
thyroid diverticulum migrates caudally and is connected to tongue by ? at ?
thyroglossal duct at foramen cecum
what environmental factor can lead to damage to cochlea
maternal use of ? can lead to congenital deafness and loss of hearing in baby
optic vesicles form and induced ? to form lens placode
mouth of ? forms pupil
? splits mesoderm into somatic and splanchnic mesoderm
? membrane separates the pleural cavity from the pericardial cavity
? membranes separate the pleural cavity from the peritoneal cavity
most common cause of pulmonary hypoplasia
congenital diaphragmatic hernia
where does congenital diaphragmatic hernia usually occur and what does it result from
posterolateral defect in diaphragm -- usually result of defective formation or fusion of pleuroperitoneal membranes
most common anomaly of the lower resp tract
traceoesophageal fistula with esophageal atresia
surfactant def leads to ?
respiratory distress syndrome
or hyaline membrane disease
how do you treat respiratory distress syndrome
3 heart defects that lead to blue babies
tet of fallot
transposition of great arteries and vessels
3 heart defects that lead to blue kids
ventricular septal defects
atrial septal defects
patent ductus arteriosus
if heart development loops in wrong direction what occurs
which way does cardiac looping occur
heart tube loops right and ventrally
separation of outflow tract - what migrates into truncal ridges and bulbar ridges?
what is the name of the structure these form in a spiral pattern
neural crest cells
failed separation of outflow tract leads to what issues
what kind of shunting occurs with blue babies
right to left shunting
what makes up tet of fallot
unequal septation - large aorta and small pulm trunk
right vent hypertrophy
ventricular septal defect
what causes the foramen ovale to close
decrease in right atrial pressure and increase in left atrial pressure -- increase in pulm venous return
secundum type ASD -- results from excessive cell death and resorption of ? -- leading to inadequate development of ?
probe patent ASD
incomplete fusion of ? and ?
USUALLY NOT CLINICALLY SIG, but in what way could it be?
septum primum and septum secundum
if a PE occured - paradoxical embolism
Primum type ASD -- failure of ? and ? to fuse?
associated with ? & ?
septum primum to fuse with endocardial cushions
mitral valve defect and trisomy 21
dorsal and ventral endocardial cushions fuse to form ?
most common congenital cardiac anomaly
What causes membranous VSD
faulty fusion of right and left bulbar ridges and endocardial cushions - allows free flow of blood
what causes muscular VSDs
single or multiple perforations in muscular IV septum -- too much apoptosis
what causes ductus arteriosus to close at birth
increase in oxygen and decrease in prostaglandins
what kind of shunting occurs with patent ductus arteriosus
what is hear on pt?
Left to right shunting of O2 blood back to pulp circulation
harsh, machine-like continuous murmur in upper left parasternal area
What can be used to close PDA
prostaglandin synthesis inhib -- indomethacin
what keeps PDA open
E1 and E2 prostaglandins
procession of hematopoiesis
yolk sac - liver - spleen - thymus - bone marrow
How does stomach move to get in right direction ?
90% clockwise - turns to right and sits down
palpable olive mass in epigastric region and projectile vomiting 2-6 weeks post birth
will vomit have bile?
double bubble sign
associated with down syndrome and polyhydramnios
what is this and what causes it?
failure of duodenum to recanalize
jejunal and ileal atresia "apple peel atresia":
segment of bowel wrapped around mesentery
what can this lead to?
disruption of mesenteric vesssels -- ischemic necrosis
pancreas development occurs with rotation and fusion of ventral and dorsal pancreatic buds
if this fusion forms a constrictive ring around duodenum what is this called and what can it lead to/present in patient as? what will vomit look like?
presents a partial duodenal obstruction similar to duodenal stenosis
bilious - green vomit
double bubble appears here as well
with midgut rotation..
what happens at 6th week?
What happens at 10th week?
what is total movement of midgut?
at 6th week - physio umbilical herniation of intestine
10th week - midgut comes back in
for a total of 270 degrees counterclockwise around the SMA
What 2 things can occur if midgut rotation goes wrong?
omphalocele and gastrochesis
most common congenital anomaly of the GI tract?
how does it present/what are some symptoms?
remnant of vitelline duct -- meckel's diverticulum
2 inches long, 2 feet from ileocecal junction, presents at 2 years, 2 tissues (gastric and pancreatic), 2% are symptomatic (ulcer can form, infection, pain)
? partitions the cloaca into a rectum and urogenital sinus
incomplete development of urorectal septum can produce ?
rectovaginal or rectourethral fistulas
what causes hirschsprung disease
failure of neural crest cells to migrate into the hindgut region
intermediate mesoderm forms 3 kidneys throughout development - what are they
pronephros - mesonephros - metanephros
metanephric kidney includes what
ureteric bud and metanephric blastema
caudal portion of urogenital sinus becomes ? and?
bladder and urethra
if bilateral renal agenesis - what will occur with fetus in regards to amniotic fluid?
oligiohydramnios -- potters syndrome
Anti Mullerian Hormone -- what produces it and what is it's function?
sertoli cells produce AMH and suppress paramesonephric ducts
what produces testosterone and what does it do for development of sex?
mesonephric duct differentiatin
in females, what happens to mesonephric (wolffian) ducts and paramesonephric ducts/
mesonephric degenerate and paramesonephric develop as no AMH to suppress
if hydrocele present in baby, what has remained open?
uterine tubes, uterus, cervix, upper 1/3 vagina are all from what dev structure
paramesonephric ducts (mullerian ducts)
inferior 2/3 of vagina dev from ?
bicornuate uterus results from ?
incomplete fusion of inferior paramesonephric ducts
describe hypospadia - what causes it?
urethral opening on ventral surface of penis
incomplete fusion of urogenital folds
describe epispadia - what causes it?
urethral opening on dorsum of penis - abnormal formation of lower abdominal wall - associated with bladder exstrophy
virilization of female external genitalia due to excess androgens
what is genetic makeup and what is this disorder?
congenital adrenal hyperplasia
feminization of male external genitalia aka male pseudohermaphrotidism is caused by deficiency in ? or ? -- what is genetic makeup?
testosterone or 46 XY
androgen insensitivity syndrome:
what is defective and what is genetic makeup?
what happens to paramesonephric ducts?
46 XY, but external genitalia are female
PM ducts don't form so no uterus, ovaries, or upper vagina -- lower portion ok because from UG sinus
which contains fetal blood and which contains maternal blood?
CV - fetal
DB - maternal
retinoic acid can cause what to happen to a baby
cleft palate, cv defects, NTDs
maternal smoking can lead to what primary effect in baby
low birth weight
micrognathia, potential cleft palate
slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal.
first arch syndrome
set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and blockage (obstruction) of the airways. also cleft palate
pierre robin -- first arch syndrome
digeorge syndrome can cause hypoplasia of what organ
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