congenital abnormalities

Question 1

major anomaly

Answer 1

compromise survival, significant functional impairment, or serious cosmetic deformity

Question 2

minor anomaly

Answer 2

no functional significance, minor cosmetic significance

Question 3

malformation

Answer 3

• caused by poor formation of tissue
• examples: cleft lip, polydactyly
• occur in embryonic period
• organ level
• may cause perinatal mortality; no spontaneous or easy repair

Question 4

deformation

Answer 4

• caused by unusual forces altering a normal structure
• examples: club foot, mandibular asymmetry
• occur in fetal period
• regional effect
• non-lethal; may have spontaneous or easy repair

Question 5

disruption

Answer 5

• caused by breakdown of normal tissue
• examples: amniotic bands
• uncertain timeline
• regional effect
• may cause perinatal mortality; no spontaneous or easy repair

Question 6

types of malformations

Answer 6

• incomplete morphogenesis
• redundant morphogenesis
• aberrant morphogenesis

Question 7

causes of malformations

Answer 7

• 60% unknown
• 20% multifactorial
• 6% chromosomal
• 7.5% monogenic
• 6.5% maternal influence

Question 8

sequence

Answer 8

a single anomaly that causes other secondary anomalies

Question 9

spina bifida sequence

Answer 9

spina bifida => injury to spinal cord => paralysis of lower limb => decreased leg motion => malformation of hip and ankle joints => hip dislocation and club foot

Question 10

robin sequence

Answer 10

leads to cleft palate

malfomation sequence: mandibular hypoplasia => failure of tongue descent => cleft palate

deformation sequence: mandibular constraint => failure of tongue descent => cleft palate