Birth defects & Teratology

Question 1

VACTERL

Answer 1

Vertebral, Anal atresia, Cardiac, TE fistula, Renal, and Limb
(vertebral defects, anal atresia, cardiac defects, tracheal-esophageal fistula, renal anomalies, and limb abnormalities)

• Additional phenotypes: genitourinary anomalies, single umbilical artery, strabismus, cloaca, and duodenal atresia
• Do NOT have ophthalmologic anomalies, brain malformations, or hearing loss. if present, may indicate another condition.
• 1 in 10,000 to 1 in 40,000 infants
• Differential dx: Disorders that share notable phenotype overlap: Alagille syndrome, CHARGE syndrome, Currarino syndrome, Fanconi anemia, Feingold syndrome, VACTERL with hydrocephalus, Baller-Gerold syndrome, Holt-Oram syndrome, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, basal cell nevus syndrome, McKusick-Kaufman syndrome, TAR (thrombocytopenia with absent radius) syndrome, Fryns syndrome, MURCS (Müllerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia) association, hemifacial microsomia, and 22q11.2 deletion syndrome.

Question 2

Potter sequence

Answer 2

renal agenesis (oligohydramnios), & more

Question 3

Pierre Robin Sequence

Answer 3

retrognathia/micrognathia, cleft palate, glossoptosis

Question 4

Anotia

Answer 4

no ear

Vit A retinopathy

Question 5

Anteverted nares

Answer 5

Upturned nose

Fetal hydantoin syndrome (also with triphalangeal thumb)

Question 6

Narrow nares

Answer 6

Narrow nasal bridge

Fetal warfarin syndrome

Question 7

Bifid nose

Answer 7

Craniofrontonasal syndrome

Question 8

Ebstein’s anomaly

Answer 8

Rare heart defect

Associated with lithium as a teratogen

Question 9

Tetralogy of Fallot

Answer 9

Overriding aorta
Rt? ventricular hypertrophy
Pulm vein atresia?

Question 10

VSD

Answer 10

may close spontaneously if small