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Sonic hedgehog gene

P - base of limbed in ZPA
A - AP patterning

Wnt-7-gene

P - apical ectodermal ridge (thickened ectoderm at distal end of each developing limb)
A - organ of dorsal-ventral axis

FGF gene

P - apical ectodermal ridge
A - stim mesoderm for limb lengthening

Homeobox gene

A - segmental organization in craniocadual direction

Fetal landmarks - 1wk

hCG begins after blastocyt implantation

Fetal landmarks - 2wk

Bilaminar disk (epi/hypoblast)
2 cavities - amniotic cavity, yolk sac
2 Eccomp to placenta - cytotrophoblast, syncytiotrophoblast

Fetal landmarks - 3wk

Gastrulation (3layers). Primitive streak, notochord, neural plate begin to form.

Fetal landmarks - 3-8wks

Neural tube formed by neuroectoderm (closes at 4th wk)
Oganogenesis
SUS to teratogens

Fetal landmarks - 4wk

Heart
limb buds

Fetal landmarks - 8wk

fetal movement (looks like baby)

Fetal landmarks - 10wk

genitalia have male/female characteristics

Alar plate

senory - dorsal (same as spinal cord)

Basal plate

Motor - ventral (same as spinal cord)

Surface ectodterm

adenohypophysis (from Rathke's puch), lens eye, epi lining of oral cavity, sensory organ of ear, olfactory epi, epidermis, salivary/sweat, mamm glands

Neuroectoderm

CNS and brain, retina

Neural crest

PNS and non-neural structures nearby

ANS, DRG, cranial nerves, celiac gang, melanocytes, parafollicular (C) cell fo thyroid, schwanna cells, pai/arachoind, bones f the skull, dontoblasts, aorticopulmonary septum

Endoderm

gut tube epi and derivatives (lung, liver, pancreas, thymus, parathyoid, thyroid follicular cells)

Mesoderm

msucle, bone, CT, serous linking o body cavities (peritoneum), spleen, CV structures, lymphatis, blood, bladder, urethra, vagina, estachian tube, kidney, adrenal ctx, skin dermis, testes, ovaires

Teratogens - ACE inhibitors

Renal damage

Teratogens - Alcohol

leading cause, MR
FAS - devel retardation, microcephaly, holoprosencphaly, facial abnormalities, limb dislocation, heart and lung fistulas (mech may inhibit cell migration)

Teratogens - alkylating agents

absence of digits (+more)

Teratogens - Aminoglycosides

CN8 tox

Teratogens - Cocaine

abn development, addiction, placental abruption

Teratogens - DES - diethylstilbestrol

vaginal clear cell adenoca.

Teratogens - folate antag

neural tube defect

Teratogens - Iodide (lack or xs)

congential goiter or hypoT

Teratogens - lithium

Ebsteins' anomaly (atrailized RV)

Teratogens - maternal diabetes

Caudal regression syndome (anal atresia to sirenomelia -mermaid)

Teratogens - smoking (nicotine, CO)

Preterm labor, placental problems, IUGR, ADHD

Teratogens - tetracyclines

discolored teeth

Teratogens - Thalidomide

limb defects - flipper limbs

Teratogens - Valproate

Inhibition of folate abs

Teratogens - Vit A (xs)

sp. abortions, birth defects (cleft palate, cardiac abn)

Teratogens - Warfarin

bone deformities, fetal hemorrhage, abortion

Teratogens - Xray, anticonvulsants

mutliple anomalies

Patent urachus

urachus - duct between the bladder and yolk sac, devel from allantois in 3rd week
patent - urine discharge from umbilicus

Vesicourachal diverticulum

outpoutching of bladder

Vitelline fistula

Vitelline duct - connects yolk sac to midgut lumen - normally obliterated at 7th week
Fistula - failure to close, meconium discharge from umbillicus

Meckels diverticulum

Partial closure of vitellin duct (patent part attached to ileum)
may have ectopic gastric mucosa (melena and pericumbilical pain)

Truncus arteriosus (TA)

GRT - ascending aorta and pulm trunk

Bulbus cordis

RV and smooth parts (outflow track) of LV/RV

Primitive ventricle

trabeculated LV/RV

Primitive atria

Trabeculated LA/RA

Left horn of sinus venosus (SV)

Coronary sinus

Right horn of SV

smooth part RA

Right common cardinal vein and right anterior cardinal ven

SVC

Fetal erythropoiesis

yolk sac (3-8), liver (6-30), speen (9-28), BM (28+)

young liver syn blood

Prosencephalon

Telencephalon-->cerebral hemispheres, lateral ventricles

Diencephalon --> thalami, etc. 3rd ventricle

Mesencephalon

Midbrain (maybe part aqueduct?)

Rhombencephalon

Metencephalon - Pons, cerebellum, part of aqueduct, part 4th ventricle

Myelencephalon - medulla, part 4th ventricle

Neural tube defects

increase AFP in amniotic fluid, maternal serum, and CSF. AChE is alos incr in CSF.
normally fuses at 4th week (assoc with low folic acid intake)

Spina bifida oculta - bony failure, dura intact (tuft of hair)
Meningocele - meninges herniate (outpocket of subaracnoid space)
Myelominingocele - meninges and spinal cord herniate

Anencephaly

malf of anterior end of the neural tube, NO brain/calvarium
incr. AFP, polyhydramnios

forebrain anomalies

Holoprosencephaly

decr. separation of cerebral hemispheres, results in cyclopia, assoc with Pataus', FAS, cleft lip/palate

forebrain anomalies

Chiari I

cerebellar tonsillar herniation through foramen magnum w/ aqueductal stenosis and hydrocephaly. (often presents with syringomyelia and lumbar myelomingocele)

posterior fossa malformation

Dandy-Walker

large posterior fossa, absent cerebellar vermis with cystic enlargement of 4th V. Canlead to hydrocephalus adn spina bifida

Syringomyelia

enlargement of central canal of spinal cord (think syringe!)
spinothal tract finbers are damaged first--> "cape like" bilaterla loss pain and temp in upper extremities w/ preservation fo touch

Aortic arch - 1st

Maxillary artery (br of external carotid) (1=MAX)

Aortic arch - 2nd

Stapedial artery and hyoid artery (Second = Stapedial)

Aortic arch - 3rd

common carotid, adn prox part internal carotid (C=3rd letter)

Aortic arch - 4th

L - aortic arch
R- r. subclavian

Aortic arch - 6th

prox part pulm aa and (on L only) ductus arteriosus

Thryoglossal duct cyst

Midline neck syste, that iwll move with swallowing. May have patent duct that goes to foramen cecum

Cleft lip

fail of fusion of maxillary and medial nasal processes (primary palate)

Cleft palate

failure of fusion of lateral paltine processes, nasal septum, and/or median palatine processes (secondary palate)

Tracheoesophageal fistual

cyanosis, choking/vomiting w/ feeding, air bubble in stomach on CXR, polyhyradmnios

Congenital pyloric stenosis

Hypertrophy of the pylorus-->obstruction
projectile vomit at 2wk, palpable mass epigastric ("olive")

Annular pancreas

ventral pancreatic bud abnormally wraps around 2nd part duodenum (duodenal narrowing)

Pancreas divisum

ventral/dorsal parts fail to fuse at 8wks

Potter's syndrome

Bilateral renal agenesis-->oligohydramnios-->limb deformities, facial deformities, pulmonary hypoplasia

Malformation of ureteric bud
"babies that can't pee in utero develop potters"

Bicornuate uterus

imcomplete fusion of paramesonephric ducts-->UT abn and infertility

Hypospadias

abd opening of urethra on inferior (ventral) side of penis. Due t failure of urtheral folds to close

Epispadias

abd opening of penil urethra on the superior (dorsal) sid eof penus due to faulty positioning of the genital tubercle

Brachial arch - 1

C - mandible, maleus incus, spenomandibular ligament
M - Mastication (masseter, temporalis, m/l pterygoid), mylohyoid, ant belly digastric, ant 2/3 tongue, tensor veli palatini, tensor tympani,
N - CN V2/3

Treacher Colllins syndrome

1st brachial arch neural crest fails to migrate-->manidulbe hypoplasia, facial abn

Brachial arch - 2

C - stapes, styloid process, inf. horn hyoid, stylohyoid ligament
M - facial expression, stapedius, stylohyoid, post belly digastric
N - CN VII

Brachial arch - 3

C - greater horn hyoid
M - Stylopharyngeus
N - CN IX (glossopharyngeal)

congenital pharyngocutaneous fistula - persistence of cleft and puch -->fistula between tonsillar area, cleft in lateral neck

Brachial arch - 4-6

C - thyroid, cricoid, arytenoids, corniculate, cuneiform
M - 4th : pharyngeal constrictors, cricothyroiid, levator veli palatini,
M - 6th: all intrinsic muscle of larynx except cricothyroid
N - 4th - CN X (superier laryngeal branch - swallowing)
N - 6th - CN X (recurrent laryngeal branch - speaking)

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