Diseases of Infancy and Childhood: Introduction and Congenital Anomalies

Question 1

What is the leading cause of deaths in those younger than 1 year old?

Answer 1

congenital malformations, deformations, and chromosomal anomalies

Question 2

when do malignant neoplasms begin to be a significant cause of death?

Answer 2

not until age 1-4 (not at all during the infancy stage)

Question 3

What follows congenital malformations, deformations, and chromosomal anomalies in causing deaths in those younger than 1 year old?

Answer 3

short gestation and low birth weight

Question 4

What are the four time spans of childhood development?

Answer 4

the neonatal period, infancy, toddler/preschool age, and school age

Question 5

what defines the neonatal period?

Answer 5

the first 4 weeks of life

Question 6

what defines infancy?

Answer 6

from the first 4 weeks of life to age 1

Question 7

what defines the toddler/preschool age?

Answer 7

ages 1-4

Question 8

what defines the school age?

Answer 8

ages 5-14

Question 9

during the neonatal period, when do most deaths occur?

Answer 9

specifically within the first 24 hours of birth

Question 10

what is the definition of a disease?

Answer 10

any deviation from or interruption of the normal structure and function of a part, organ, or system of the body as manifested by characteristic signs and symptoms

Question 11

what is the definition of a disorder?

Answer 11

a derangement or abnormality of function

Question 12

what is the definition of a syndrome?

Answer 12

a set of symptoms that occur together

Question 13

what are congenital anomalies?

Answer 13

“birth defects” that are anatomical defects that are present at birth but some such as cardiac defects and renal anomalies may not become clinically apparent until years later

Question 14

what do malformations represent?

Answer 14

primary errors of morphogenesis in which there is an intrinsically abnormal developmental process

Question 15

What are disruptions a result from?

Answer 15

secondary destruction of an organ or body region that was previously normal in development (so an extrinsic disturbance in morphogenesis); a variety of environmental agents may cause disruptions

Question 16

What is fundamental to the pathogenesis of deformations?

Answer 16

localized or generalized compression of the growing fetus by abnormal biomechanical forces

Question 17

deformations represent another congenital anomaly due to what kind of disturbance?

Answer 17

an extrinsic disturbance

Question 18

what type of extrinsic disturbances can cause a deformation?

Answer 18

maternal, fetal, or placental disturbance

Question 19

What are the signs associated with potter’s sequence?

Answer 19

breech presentation, positioning defects of the feet and hands, altered facies, and pulmonary hypoplasia

Question 20

What is a malformation syndrome?

Answer 20

a constellation of congenital anomalies believed to be pathologically related

Question 21

what is the difference between a sequence and a syndrome?

Answer 21

a syndrome cannot be explained on the basis of a single localized initiating defect, whereas a sequence can

Question 22

What is a classical example of a malformation syndrome?

Answer 22

congenital rubella syndrome

Question 23

what are malformation syndromes most often caused by?

Answer 23

a single etiologic agent such as a viral infection or specific chromosomal abnormality

Question 24

what are the 3 common known etiologies of most congenital anomalies?

Answer 24

1. genetic 2. environmental 3. multifactorial

Question 25

alcohol when consumed even in modest amounts during pregnancy is an important what?

Answer 25

environmental teratogen

Question 26

What are is the classical presentation of fetal alcohol syndrome disorder?

Answer 26

growth retardation, facial anomalies, and psychomotor disturbances

Question 27

When is a pregnancy at risk for spontaneous abortion due to injurious agents?

Answer 27

in the early embryonic period (first 3 weeks after fertilization)

Question 28

when is the embryo most susceptible to teratogenesis?

Answer 28

between the third and the ninth weeks

Question 29

when is peak sensitivity to teratogenesis?

Answer 29

between the 4th and the 5th weeks

Question 30

what are examples of malformations?

Answer 30

Examples include spina bifida, cleft lip/palate, congenital heart defect, and neural tube defects

Question 31

What are some examples of deformations?

Answer 31

Examples include craniofacial asymmetry, arthrogryposis (joint contractures) and talipes (club footing)

Question 32

What are some examples of disruptions?

Answer 32

facial clefts and missing digits or limbs (amniotic bands)