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Boards U.S. Teratogens > Teratogens/US > Flashcards

Teratogens/US Flashcards

1
Q

Choroid Plexus Cyst

A

T18 Edwards

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2
Q

Cystic Hygroma

A

Sack in back of neck. Turner, heart defect, noonan, most likely due to aneuploidy. Most common

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3
Q

Duodenal Atresia

A

“double bubble” T21

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4
Q

Echogenic Bowel

A

Bleeding, CF, T21, infection

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5
Q

Echogenic Intracardiac Focus

A

(EIF) T21

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6
Q

Holoprosencephaly

A

T13, Smith Lemi Opitz (AR, DHRC7)

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7
Q

Pyelectasis

A

More common in male/urine in kidneys. T21

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8
Q

Short Femur

A

T21, skeletal dysplasia

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9
Q

Thick NT

A

Turner, Noonan, aneuploidy, heart defect

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10
Q

Holoprosencephaly, 2/3 syndactlyly

A

Smith Lemi Opitz (AR, DHRC7)

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11
Q

Cloverleaf Skull

A

Thanatophoric type 2, FGFR2 (apert syndactyly, crouzon strabismus, pfeiffer brachydactyly short fingers thumb bent away)

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12
Q

Telephone Receiver Femur

A

Thanatophoric dysplasia type 1
FGFR3 AD

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13
Q

Rhabdomyoma

A

TSC, heart

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14
Q

Radial Ray Anomalies

A

(radius and thumb) Fancomi anemia, Holt oram TBX5 hand AD (and) heart, heart arm tbx through both sides AD, thrombocytopenia absent radius syndrome RBM8A AR

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15
Q

Omphalocele

A

Beckwith Wedeman, T21

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16
Q

Occipital encephalocele, cystic kidneys, polydactyly

A

Meckle Gruber MKS genes AR

17
Q

Heart ant Arm anomaly

A

holt oram (AD, TBX5) heart arm, hand heart, think TBX through both hearts ASD/VSD

18
Q

Caudal regression

A

Maternal diabetes

19
Q

Interrupted aortic arch

A

22q

20
Q

truncus arteriosis

A

22q

21
Q

TET

A

1: PVS
2:VSD
3:shifted aorta
4: R Ventricular hypertrophy

22Q, T21

22
Q

Heterotaxy

A

ciliopathys, organs formed wrong or in wrong place

23
Q

Ebstein Anomaly

A

defect in tricuspid valve. Lithium exposure

24
Q

Pulmonic Valve Stenosis

A

Noonan

25
Q

ASD VSD

A

T21, 18, 13

26
Q

Coarctation of the Aorta

A

Turner

27
Q

Supravalvular aortic stenosis

A

SVAS is Williams Syndrome (7q11.23 deletion syndrome) AD High proportion in Norway

28
Q

Tetracycline

A

tetra = 4 only risk after 4 months, teeth discoloration

29
Q

Vitamin folic acid def.

A

NTD’s spina bifida, anencephaly occurs 4-8 weeks

30
Q

Accutane

A

CNS, ear, heart, thymus

31
Q

Ace Inhibitors

A

Harry potter ACR’d kidneys. Potters sequences, renal, IUGR, critical period 2 and 3 trimester

32
Q

Alcohol

A

LD, DD, Ptosis, short palp fissures, smooth philtrum

33
Q

Anticonvulsants

A

Valproic acid, Phenobarbital: ONTD’s Clefting, CHD, Limbs, Lumbar meningocele, myelomeningocele, long philtrum, cupids two lip, fingernail hyperplasia

34
Q

Lithium

A

Ebstein anomaly = defect of tricuspid valve

35
Q

Maternal PKU

A

Microcephaly, heard defect, ID

36
Q

Mercury

A

Minimata disease (neurological)

37
Q

Serotonin Reuptake Inhibitors

A

SSRIs: neonatal jitteriness, irritability, respiratory distress

38
Q

Thalidomide

A

Limb reduction

Boards U.S. Teratogens (3 decks)

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