Mechanisms of Birth Defects

Question 1

What causes most birth defects

Answer 1

unknown - 40%

multifactorial - 25%

Question 2

The VACTERL association (also VATER association)

Answer 2

refers to the non-random co-occurrence of birth defects seen together more often than chance

• Vertebral anomalies
• Anal atresia
• Cardiac anomalies
• Tracheo-Esophageal fistula
• Renal
• Limb

Question 3

Tetralogy of Fallot

associations

Answer 3

di george

Accutane aka Isotretinoin

Question 4

Leading cause of intellectual Disability

↑ microcephaly, facial abnormal, retardation, limb dislocation, heart- lung fistulas

Answer 4

Fetal Alcohol syndrome

Question 5

Compare Meningocele and Menigomyelocele

Answer 5

1- Meningocele= menigies but no neural tissue out through bone

2- Menigomyelocele= Meninges and neural tissue (eg, cauda equina) herniate through bony defect.

Both prevented by Folic Acid

Question 6

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

Answer 6

Cleft palate

*Cleft lip and cleft palate have distinct, multifactorial etiologies, but often occur together.

Question 7

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

Answer 7

Cleft lip

*Cleft lip and cleft palate have distinct, multifactorial etiologies, but often occur together.

Question 8

Velo-Cardio-Facial syndrome (del 22q11)

Answer 8

Cleft palate
Septal defects
Shprintzen syndrome

Question 9

DiGeorge syndrome (del 22q11)

Answer 9

Congenital heart disease
Hypoparathyroidism
Thymic aplasia