Teratogens + Genetic Syndromes Flashcards
ACE inhibitors
renal dysgenesis
Alkylating agents
adactyly
Iodide
goiter, hypothyroidism
Maternal DM
- fetal macrosomia (risk of shoulder dystocia)
- caudal regression syndrome (anal atresia to sirenomelia)
- CV defects
Retinoic acid
- CNS defects
- hydrocephalus
- microtia/anotia
- micrognathia
- athymia
trisomy 13
Patau syndr: MR, cleft lip/Palate, holoProsencephaly, Polydactyly, rocker-bottom feet, death by 1 y/o
trisomy 18 =
CV defect?
Edward syndrome: MR, micrognathia, clenched hands, rocker-bottom feet, death by 1 y/o
*VSD
Fragile X:
gene defect?
CV defect?
XR ∆FMR1 (CGG trinucleotide repeats)

Mitral valve prolapse
Williams syndrome = deletion of…
s/s?
(CV defect?)
7q*** (which includes elastin)
MR, elfin facies, extreme friendliness, English skills, hypercalcemia, CV defects (supravalvular aortic stenosis)
Dx Digeorge?
intradermal Candida test
Tx Turner’s?
GH replacement + ppx bilateral gonadectomy
Noonan CV defect?
pulmonic stenosis
VACTERL syndrome?
vertebral defects, Anal atresia, CV defect, TE fistula, Esophageal atresia, Renal/Radial defects, Limb defects
Cornelia de Lange syndrome?
MR, bushy eyebrows + hirsutism, limb defects, self-injurious behavior
Marfan genetic defect?
 AD ∆fibrillin (15q)
Marfan + clotting d/o?
homocystinuria
Ehlers-Danlos syndrome:
genetic defect?
CV defect?
AD ∆type 3 collagen
MVP, aortic aneurysms, aortic dissection
Beckwith-Wiedemann syndrome =
dx?
generalized overgrowth, large tongue, neonatal hypoglycemia, certain cancers (Wilms tumor, hepatoblastoma)
Dx ↑AFP
Holt-Oram syndrome:
inheritance?
pper limb abnormalities (hypoplastic thumb, hypoplastic radii, missing pectoralis major) + cardiac abnormalities (Heart-Arm syndrome)
AD
Jeune syndrome =
long/narrow thorax → hypoplastic lungs, fibrotic liver, death due to pulmonary causes
(asphyxiating thoracic dysplasia)
Crouzon syndrome
craniosynostosis, wide-eyes w/ proptosis, “beak nose”
Neurofibromatosis I (von Recklinghausen disease) =
- 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]
Tuberous Sclerosis?
CNS/retinal hamartomas, sebaceous adenomas, hypopigmented “ash leaf” spots, Shagreen patches, renal angiomyolipomas, cardiac rhabdomyomas
Sturge-Weber syndrome:
facial “port-wine stain” w/ ipsilateral AVM (Dx head CT shows “gyriform calcifications”)
PHACES syndrome:
Sturge-Weber syndrome + other commonly-associated defects:
- Posterior fossa tumors
- Hemangiomas on face
- Arterial abnormalities
- Coarctation of aorta
- Eye abnormalities
- Sternal defects
Von Hippel-Lindau syndrome:
bilateral RCC, hemangioblastomas, pheos
Waardenburg syndrome:
inheritance?
wide-eyes, broad nasal bridge, medial hyperplasia of eyebrows, white forelock (think Rogue), heterochromia, deafness
AD or associated w/ advanced paternal age
Frohlich syndrome (adiposogenital dystrophy):
hypothalamic tumor → hyperactive feeding center (childhood obesity) + ↓GnRH secretion (secondary hypogonadism)
*similar to Prader-Willi syndrome
Laurence-Moon-Biedl syndrome:
- obesity
- MR
- hypogonadism
- polydactyly
- retinitis pigmentosa → night blindness
