Teratogens + Genetic Syndromes

Question 1

ACE inhibitors

Answer 1

renal dysgenesis

Question 2

Alkylating agents

Answer 2

adactyly

Question 3

Iodide

Answer 3

goiter, hypothyroidism

Question 4

Maternal DM

Answer 4

• fetal macrosomia (risk of shoulder dystocia)
• caudal regression syndrome (anal atresia to sirenomelia)
• CV defects

Question 5

Retinoic acid

Answer 5

• CNS defects
• hydrocephalus
• microtia/anotia
• micrognathia
• athymia

Question 6

trisomy 13

Answer 6

Patau syndr: MR, cleft lip/Palate, holoProsencephaly, Polydactyly, rocker-bottom feet, death by 1 y/o

Question 7

trisomy 18 =

CV defect?

Answer 7

Edward syndrome: MR, micrognathia, clenched hands, rocker-bottom feet, death by 1 y/o
*VSD

Question 8

Fragile X:
gene defect?
CV defect?

Answer 8

XR ∆FMR1 (CGG trinucleotide repeats)

Mitral valve prolapse

Question 9

Williams syndrome = deletion of…
s/s?
(CV defect?)

Answer 9

7q*** (which includes elastin)

MR, elfin facies, extreme friendliness, English skills, hypercalcemia, CV defects (supravalvular aortic stenosis)

Question 10

Dx Digeorge?

Answer 10

intradermal Candida test

Question 11

Tx Turner’s?

Answer 11

GH replacement + ppx bilateral gonadectomy

Question 12

Noonan CV defect?

Answer 12

pulmonic stenosis

Question 13

VACTERL syndrome?

Answer 13

vertebral defects, Anal atresia, CV defect, TE fistula, Esophageal atresia, Renal/Radial defects, Limb defects

Question 14

Cornelia de Lange syndrome?

Answer 14

MR, bushy eyebrows + hirsutism, limb defects, self-injurious behavior

Question 15

Marfan genetic defect?

Answer 15

 AD ∆fibrillin (15q)

Question 16

Marfan + clotting d/o?

Answer 16

homocystinuria

Question 17

Ehlers-Danlos syndrome:
genetic defect?
CV defect?

Answer 17

AD ∆type 3 collagen

MVP, aortic aneurysms, aortic dissection

Question 18

Beckwith-Wiedemann syndrome =

dx?

Answer 18

generalized overgrowth, large tongue, neonatal hypoglycemia, certain cancers (Wilms tumor, hepatoblastoma)

Dx ↑AFP

Question 19

Holt-Oram syndrome:

inheritance?

Answer 19

pper limb abnormalities (hypoplastic thumb, hypoplastic radii, missing pectoralis major) + cardiac abnormalities (Heart-Arm syndrome)

AD

Question 20

Jeune syndrome =

Answer 20

long/narrow thorax → hypoplastic lungs, fibrotic liver, death due to pulmonary causes

(asphyxiating thoracic dysplasia)

Question 21

Crouzon syndrome

Answer 21

craniosynostosis, wide-eyes w/ proptosis, “beak nose”

Question 22

Neurofibromatosis I (von Recklinghausen disease) =

Answer 22

• café-au-lait spots
• Lisch nodules (iris hamartomas)
• optic gliomas
• CNS tumors
• pheos [note: NFI + HTN = Dx 24 hr urinary metanephrines to r/o pheo]

Question 23

Tuberous Sclerosis?

Answer 23

CNS/retinal hamartomas, sebaceous adenomas, hypopigmented “ash leaf” spots, Shagreen patches, renal angiomyolipomas, cardiac rhabdomyomas

Question 24

Sturge-Weber syndrome:

Answer 24

facial “port-wine stain” w/ ipsilateral AVM (Dx head CT shows “gyriform calcifications”)

Question 25

PHACES syndrome:

Answer 25

Sturge-Weber syndrome + other commonly-associated defects:

• Posterior fossa tumors
• Hemangiomas on face
• Arterial abnormalities
• Coarctation of aorta
• Eye abnormalities
• Sternal defects

Question 26

Von Hippel-Lindau syndrome:

Answer 26

bilateral RCC, hemangioblastomas, pheos

Question 27

Waardenburg syndrome:

inheritance?

Answer 27

wide-eyes, broad nasal bridge, medial hyperplasia of eyebrows, white forelock (think Rogue), heterochromia, deafness

AD or associated w/ advanced paternal age

Question 28

Frohlich syndrome (adiposogenital dystrophy):

Answer 28

hypothalamic tumor → hyperactive feeding center (childhood obesity) + ↓GnRH secretion (secondary hypogonadism)

*similar to Prader-Willi syndrome

Question 29

Laurence-Moon-Biedl syndrome:

Answer 29

• obesity
• MR
• hypogonadism
• polydactyly
• retinitis pigmentosa → night blindness