Congenital Abnormalities

Question 1

What causes most of spontaneous abortions in recognized pregnancies?

Answer 1

Gross structural abnormalities

Question 2

Whats the difference between major and minor abnormalities?

Answer 2

Major has adverse outcome on the function (clinical) acceptability or soccial acceptability of the individual, minor does not

Question 3

Define a malformation

Answer 3

Primary structural defect of an organ or parts of it that results in an inherent abnormality in development. The early development of the oran has been arrested or misdirected

Question 4

What are some examples of malformations?

Answer 4

Cleft lip/palate or cardiac malformations

Question 5

What causes single organ malformations?

Answer 5

Multifactorial inheritance

Question 6

What causes multiple organ malformations?

Answer 6

Chromosomal abnormalities or single gene mutations

Question 7

What is a disruption? What is it also known as?

Answer 7

Abnormal structure of an organ or tissue as a result of external factors disrupting the normal developmental process. AKA secondary or extrinsic malformation

Question 8

Are disruptions genetic?

Answer 8

Not usually genetic

Question 9

What are some examples of disruptions?

Answer 9

Ischemia, infection, trauma

Question 10

What are amniotic bands?

Answer 10

A disruption that develops when a strand of amnion becomes entwined around a fetus’ limb or digit

Question 11

What is deformation? When do they usually occur?

Answer 11

Defect resulting from an abnormal mechanical force that distorts an otherwise normal structure. Usually occur late in pregnancy

Question 12

What can cause deformation? Can it be fixed?

Answer 12

Reduced amniotic fluid, intrauterine crowding or, a structurally abnormal uterus. The underlying organ can usually be treated

Question 13

What is an example of deformation?

Answer 13

clubfoot

Question 14

What is dysplasia and where does is manifest?

Answer 14

Abornmal organization or assembly of cells into tissues and it manifests in a specific tissue

Question 15

What can dysplasia predispose you to later on in life?

Answer 15

Cancer

Question 16

What is dysplasia’s inheritance pattern?

Answer 16

Genetic inheritance with a high recurrence risk in relatives of affected individuals

Question 17

What causes ectodermal dysplasia? What tissues does it affectt?

Answer 17

Mutations on genes involved with signaling mesoderm and ectoderm leading to dysfunctional ectoderm. Hair teeth skin nails

Question 18

What is a sequence?

Answer 18

Findings that occur as a consequence of a cascade of events initiated by a single factor

Question 19

What is potter sequence?

Answer 19

Chronic leakage of fluid causing oligohydramnios - the decrease of amniotic fluid

Question 20

What does the potter sequence result in?

Answer 20

Clubbed feed, hip dislocation, facial features, pulmonary hypoplasia

Question 21

What is a syndrome?

Answer 21

Consistent and recognizable patterns of abnormalities for which there often is a known underlying cause

Question 22

What abnormalities are associated with Down Syndrome?

Answer 22

Low IQ, congenital heart and GI tract defects, epicanthic folds, broad nasal bridge, short stature

Question 23

What is an association? How are they named?

Answer 23

Malfunctions that tend to manifest in clusters more frequently than wold be expected by chance. Lack of consistency of abnormalities and no underlying explanation. Names are often acronyms

Question 24

VACTERL patients need at least 3 of what signs?

Answer 24

Vertebra defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal and limb abnormalities

Question 25

Environment can disrupt development by interfering with what devlopmental processes

Answer 25

Gene expression, cell prolferation, differentiation, migration and morphogenesis

Question 26

Prenatal exposure to alcohol results in FAS, what effects does it have?

Answer 26

Characteristic facial anomalies, growth retardation, CNS involvment in the form of cognitive impairment, learning disabilities or behavioral abnormalities

Question 27

What are the signs of FAS?

Answer 27

Mental retardation, behavior impairment, attention deficit, epicanthal folds, thin upper lip, hypoplastic nose, smooth philtrum, micrognathia

Question 28

What drug caused phocomelia and how did it do it?

Answer 28

Thalidomide interferes with the formation of blood vessels

Question 29

What is phocomelia?

Answer 29

Limb malformations

Question 30

How does Zika virus affect fetus?

Answer 30

Infects neural stem cells in a developing fetus affecting their proliferation, growth, differentiation which ultimately impairs normal development of the nervous system

Question 31

What severe sign can zika virus cause?

Answer 31

Severe microcephaly