Diseases of Infancy and Childhood: Introduction and Congenital Anomalies Flashcards
What is the leading cause of deaths in those younger than 1 year old?
congenital malformations, deformations, and chromosomal anomalies
when do malignant neoplasms begin to be a significant cause of death?
not until age 1-4 (not at all during the infancy stage)
What follows congenital malformations, deformations, and chromosomal anomalies in causing deaths in those younger than 1 year old?
short gestation and low birth weight
What are the four time spans of childhood development?
the neonatal period, infancy, toddler/preschool age, and school age
what defines the neonatal period?
the first 4 weeks of life
what defines infancy?
from the first 4 weeks of life to age 1
what defines the toddler/preschool age?
ages 1-4
what defines the school age?
ages 5-14
during the neonatal period, when do most deaths occur?
specifically within the first 24 hours of birth
what is the definition of a disease?
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
what is the definition of a disorder?
a derangement or abnormality of function
what is the definition of a syndrome?
a set of symptoms that occur together
what are congenital anomalies?
“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
what do malformations represent?
primary errors of morphogenesis in which there is an intrinsically abnormal developmental process
What are disruptions a result from?
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
What is fundamental to the pathogenesis of deformations?
localized or generalized compression of the growing fetus by abnormal biomechanical forces
deformations represent another congenital anomaly due to what kind of disturbance?
an extrinsic disturbance
what type of extrinsic disturbances can cause a deformation?
maternal, fetal, or placental disturbance
What are the signs associated with potter’s sequence?
breech presentation, positioning defects of the feet and hands, altered facies, and pulmonary hypoplasia
What is a malformation syndrome?
a constellation of congenital anomalies believed to be pathologically related
what is the difference between a sequence and a syndrome?
a syndrome cannot be explained on the basis of a single localized initiating defect, whereas a sequence can
What is a classical example of a malformation syndrome?
congenital rubella syndrome
what are malformation syndromes most often caused by?
a single etiologic agent such as a viral infection or specific chromosomal abnormality
what are the 3 common known etiologies of most congenital anomalies?
- genetic 2. environmental 3. multifactorial
alcohol when consumed even in modest amounts during pregnancy is an important what?
environmental teratogen
What are is the classical presentation of fetal alcohol syndrome disorder?
growth retardation, facial anomalies, and psychomotor disturbances
When is a pregnancy at risk for spontaneous abortion due to injurious agents?
in the early embryonic period (first 3 weeks after fertilization)
when is the embryo most susceptible to teratogenesis?
between the third and the ninth weeks
when is peak sensitivity to teratogenesis?
between the 4th and the 5th weeks
what are examples of malformations?
Examples include spina bifida, cleft lip/palate, congenital heart defect, and neural tube defects
What are some examples of deformations?
Examples include craniofacial asymmetry, arthrogryposis (joint contractures) and talipes (club footing)
What are some examples of disruptions?
facial clefts and missing digits or limbs (amniotic bands)
