L7

Question 1

Deals with the causes, mechanism and pattern of abnormal development

Answer 1

Teratology

Question 2

Cystic hygroma is

Answer 2

A benign neoplastic cystic tumor of the neck of lymphatic origin

Question 3

% of congenital malformation causes

Answer 3

55% multifactorial
30% genetic
15% environmental

Question 4

cataracts

Answer 4

Rubella virus

Question 5

Heart malformation

Answer 5

Rubella virus

Question 6

Deafness

Answer 6

Rubella virus

Question 7

Reduction defects of limbs

Answer 7

Thalidomide

Question 8

Female external genitalia

Answer 8

Androgenic steroids

Question 9

Nasal hypoplasia

Answer 9

Coumadin anticoagulants

Question 10

Fetal thyroid deficiency

Answer 10

Radioiodine therapy

Question 11

Staining of enamel in primary teeth Staining of crowns of permanent teeth

Answer 11

Tetracycline

Question 12

Xo

Answer 12

Turner syndrome
Immature female

Question 13

Xxy

Answer 13

Klinefelter syndrome

Question 14

Xyy

Answer 14

Normal appearance; reputed difficulty with impulsive behavior

Question 15

Normal appearance
retardation (1/3rd of cases)
fertile (in many cases)

Answer 15

Xxx

Question 16

most common abnormalities of autosome numbers

Answer 16

Trisomies

Question 17

Dwarfism caused mainly by shortening of limbs

Answer 17

Achondroplasia, dominant autosomal

Question 18

Absence of iris (usually not complete)

Answer 18

Aniridia, autosomal dominant

Question 19

Numerous cysts in kidneys

Answer 19

Polycystic kidney disease (adult onset, type III), AUTOSOMAL DOMINANT
Or

Polycystic kidney disease (prenatal type I) AUTOSOMAL RECESSIVE

Question 20

Absence of pigmentation

Answer 20

Albinism, AUTOSOMAL RECESSIVE

Question 21

Defective blood clotting

Answer 21

Hemophilia, X-LINKED RECESSIVE

Question 22

Enlargement of cranium

Answer 22

Hydrocephalus, X-LINKED RECESSIVE

Question 23

CVS defects

Answer 23

Rubella virus

Question 24

Cephalic deformities, intrauterine growth retardation

Answer 24

Cytomegalovirus

Question 25

Cephalic deformities, mental retardation, prematurity

Answer 25

Toxoplasma gondi

Question 26

Anencephaly, spina bifida, intellectual disability

Answer 26

Hyperthermia

Question 27

Microcephaly, spina bifida, cleft palate, limb defects

Answer 27

Ionizing radiation

Question 28

Growth & mental retardation, facial & trunk malformations

Answer 28

Alcohol

Question 29

Variety of major anomalies throughout body

Answer 29

Chemotherapeutic drugs

Question 30

Spontaneous abortion, prematurity, low birth weight, heart, craniofacial, and neural tube defects

Answer 30

Industrial solvents

Question 31

Growth retardation, neurological disorders

Answer 31

Lead

Question 32

Heart anomalies

Answer 32

Lithium

Question 33

Defects related to derivatives of neural crest

Answer 33

Retinoic acid

Question 34

Hearing loss, auditory nerve damage

Answer 34

Streptomycin

Question 35

Hypoplasia and staining of tooth enamel, staining of bones

Answer 35

Tetracycline

Question 36

Limb defects, ear defects, cardiovascular anomalies

Answer 36

Thalidomide

Question 37

Masculinization of female genitalia, accelerated genital development in males

Answer 37

Androgens

Question 38

Malformation of the uterus, uterine tubes, and upper vagina; vaginal cancer; malformed testes

Answer 38

Diethylstilbestrol

Question 39

Various malformations; heart and neural defects most common

Answer 39

Maternal diabetes

Question 40

Neural tube defects, heart defects, omphalocoele

Answer 40

Maternal obesity