PATH - General

Question 1

Fetal alcohol syndrome

Answer 1

Leading cause of intellectual disability in the US

INC incidence of congenital abnormalities, including pre- and postnatal developmental
retardation, microcephaly, facial abnormalities (smooth philtrum, thin vermillion border [upper lip], small palpebral fissures), limb dislocation, heart defects.

Heart-lung fistulas and
holoprosencephaly in most severe form.

Mechanism is failure of cell migration.

Question 2

Patent urachus

Answer 2

Total failure of urachus to obliterate

*urine discharge from umbilicus.

Question 3

Urachal cyst

Answer 3

*Partial failure of urachus to obliterate

fluid-filled cavity lined with uroepithelium, between
umbilicus and bladder

Can lead to infection, adenocarcinoma

Question 4

Vesicourachal diverticulum

Answer 4

• Slight failure of urachus to obliterate Ž

* outpouching of bladder

Question 5

Vitelline fistula

Answer 5

Vitelline duct *fails to close Ž

*meconium discharge from umbilicus

Question 6

Meckel diverticulum

Answer 6

Partial closure of vitelline duct, with patent portion attached to ileum (true diverticulum)

May have heterotopic gastric and/or pancreatic tissue–>melena, hematochezia, abdominal pain

Question 7

DiGeorge syndrome

Answer 7

Chromosome *22q11 deletion

Aberrant development of 3rd and 4th pouches–>T-cell deficiency (thymic aplasia) and hypocalcemia (failure of parathyroid development)

Associated with *cardiac
defects (conotruncal anomalies)

Question 8

Cleft lip

Answer 8

failure of fusion of the *maxillary and *medial nasal processes (formation of 1° palate)

Question 9

Cleft palate

Answer 9

failure of fusion of the two *lateral palatine shelves or failure of fusion of lateral
palatine shelves with the *nasal septum and/or *median palatine shelf (formation of 2° palate)