embryology Flashcards

1
Q

epispadias is due to:

A

faulty positioning of genital tubercle

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2
Q

what developmental abnormality must be present to allow for indirect inguinal hernia?

A

patent processus vaginalis

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3
Q

What L/S ratio indicates adequate fetal surfactant production?

A

> /=2

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4
Q

what process leads to development of T1D?

A

inappropriate apoptosis of Beta cells, possibly triggered by a virus(?)

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5
Q

gene required for AP patterning of limbs. what part of the limb is it expressed in? what happens when it is mutated?

A

Sonic hedgehog. expressed in base of limbs in zone of polarizing activity. can cause holoprosencephay, think trisomy 13

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6
Q

gene required for dorsal ventral patterning of limbs. where is it expressed

A

Wnt 7, expressed in AER

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7
Q

what gene stimulates mitosis of underlying mesoderm, providing for lengthening of limbs. where is it found

A

FGF gene, and AER

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8
Q

gene for segmental organization of embryo, in craniocaudal dircection

A

HOX genes

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9
Q

Teratogen: ACE inhibitor

A

renal damage

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10
Q

Teratogen: Alkylating agents

A

absence of digits,

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11
Q

Teratogen: Aminoglycosides

A

CN VIII toxicity

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12
Q

Teratogen: carbamazepine

A

NTD, craniofacial defect, fingernail hypoplasia, developmental delay, IUGR

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13
Q

Teratogen: DES

A

Vaginal clear cell adenocarcinoma, didephys uterus

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14
Q

Teratogen: Folate antagonists (and list 5)

A

neural tube defects: methotrexate, proguanil, pyrimethamine, trimethoprim

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15
Q

Teratogen: lithium

A

ebstein anomaly (atrialized right ventricle, and tricuspid valve is more superior.

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16
Q

Teratogen: methimazole

A

aplasia cutis gongentia

17
Q

Teratogen: phenytoin

A

fetal hydantoin syndrome: microcephaly, hypoplastic nails and distal phalanges. cardiac defects, IUGR, intellecutal disability

18
Q

Teratogen: valproate

A

inhibits maternal folate absoption:NTD

19
Q

Teratogen: warfarin

A

bone defomities, fetal hemorrhage, abortion, ophthalmologic abn. agenesis of corpus callosum.

20
Q

Teratogen: alcohol

A

no philtrum, micrognathia, short palpebral fissure, mental retardation, epicanthal folds

21
Q

Teratogen: cocaine

A

fetal addiction, placental abruption

22
Q

Teratogen: nicotine/CO, smoking

A

LBWeight, preterm labor, placental problems, IUGR, ADHD

23
Q

lack of xs iodine

A

congenital goiter or hypothyroidism (cretinism, potbelly, pale, edema, protruding umbilicus, macroglossia, mental retardation

24
Q

maternal diabetes

A

anal atresia, sirenomelia (mermaid babies) possible.

25
Q

isotretinoin

A

hearing defect, missing ear lobes, visual impairment, facial dysmorphis, mental retardation, CNS defects, cardiovascular defect (TOF?). disrupts HOX gene function

26
Q

CMV. how is it transmitted and sx

A

transplacental

deafness, IUGR, CNS calcification (periventricular),

27
Q

HSV2 how is it transmitted and sx

A

birth canal.

IUGR, vesicular lesions or scarring. keratoconjunctivitis, microcephaly

28
Q

rubella how is it transmitted and sx

A

transplacental

deafness (sensorineural), PDA, cataract, thombocytopenia, bluberry muffin rash, hepatomegaly

29
Q

syphilis how is it transmitted and sx

A

transplacental

hepatitis, saddle nose, blidnness, peg teeth

30
Q

toxoplasmosis how is it transmitted and sx

A

transplacental

blindness due to chorioretinitis, deafness, CNS calcification in basal ganglia, IUGR, hydrocephalus, HSM

31
Q

varicella how is it transmitted and sx

A

transplacental

limb defects, lower limb hypoplasia. mental retardation, blindness due to chorioretinits, cataracts, skin scars

32
Q

HIV how is it transmitted and sx

A

transplacental, birth canal, breast feeding

oral thrust, recurrent bacterial infections, intracranial calcification, failure to thrive

33
Q

most common cause of stillbirth. other causes

A

abruptio placentae

maternal diabetes, infection, Rh

34
Q

most common cause of spontaneous abortion. other causes

A

trisomy 16.

advanced maternal age, infection by GBS, listeria

35
Q

triple screen results for downs (AFP, hCG, estriol)

A

AFP down. hCG up. urine estriol down