Congenital Malformations

Question 1

Mental retardation Low set ears Holoprosencephaly (small forebrain and fusion of lateral ventricles to form a large one) Hypotelorism (eyes closer to each other) Microphthalmia Deafness Microcephaly Bilateral cleft lip and/or palate Single umbilical artery Polydactyly Prominent posterior heel

Answer 1

Patau Syndrome

Question 2

Mental retardation Growth retardation Prominent occiput Short sternum Low set (and malformed) ears Flexed digits Narrow pelvis

Answer 2

Edwards Syndrome

Question 3

Mental retardation Flat nasal bridge Upward slant to palpebral fissures Small mouth and ears Protuding tongue Single palmar line (simian crease) Clinodactyly of 5th digit Heart defects

Answer 3

Down Syndrome

Question 4

mutation chromo 10 FGFR2 gene

Answer 4

apert’s syndome (acrocephalosynctayly)

Question 5

mutation chromo 4 FGFR3 gene

Answer 5

achondroplasia

Question 6

trisomy 21

Answer 6

down syndrome

Question 7

trisomy 18

Answer 7

edwards syndrome

Question 8

trisomy 13

Answer 8

Patau syndrome

Question 9

en que sexo es mas comun defectos congenitos en PR

Answer 9

nenes

Question 10

caus principal de mortad infantil en PR

Answer 10

prematurez y bajo peso al nacer

Question 11

Defecto congenito mas comun en PR

Answer 11

corazon

Question 12

genotype tuner syndrome

Answer 12

45 XO

Question 13

genotype kleinfelter syndrome

Answer 13

47 XXY

Question 14

large skull, small mmidface, average trunk, short limbs, short fingers, lumbar lordosis

Answer 14

achondroplasia

Question 15

microdeletion on chromo15 in paternal chromo

Answer 15

prader willi syndrome

Question 16

microdeletion on chromo15 in maternal chromo

Answer 16

angelman syndrome

Question 17

• Mental retardation • Cannot speak • Poor motor development • Prone to unprovoked and prolonged periods of laughter

Answer 17

Angelman syndrome

Question 18

Mental retardation • Hypotonia • Obesity • Hypogonadism • Cryptorchidism

Answer 18

Prader Willi Syndrome

Question 19

chemical agents causing short palpebral fissures, maxillary hypoplasia, heart defects, mental retardation

Answer 19

fetal alcohol syndrome

Question 20

chemical agents causing small, abnormally shaped ears, mandibular hypoplasia, cleft palate

Answer 20

Vitamin A embryopathy

Question 21

chemical agents causing limb defects, heart malformations, meromelias, anotia, deafness, GI and uterus malformation

Answer 21

Thalidomide

Question 22

What is the leading cause of mental retardation?

Answer 22

fetal alcohol syndrome

Question 23

phenotype of FAS

Answer 23

congenital malformations that include growth deficiency and mental retardation

Question 24

what type of chemical agent is Vit A?

Answer 24

boh a morphogen and a teratogen

Question 25

What is the recommended daily intake of Vit A? Why?

Answer 25

5,000IU…its has a dose-response effect

Question 26

Vit A phenotype

Answer 26

hydrocephalia, ear defects, hear malformations

Question 27

Defectos congenitos mas comunes en PR

Answer 27

1. Hipospadias 2. VSD 3. ASD Secundum (auricolar) 4. Talipes Equinovarus

Question 28

3 risks factors for hypospadias in PR

Answer 28

more than 2.5kg wght, age of mother, private health insurance

Question 29

where is the cluster of cases in PR?

Answer 29

north-central region

Question 30

amelia

Answer 30

absence of limbs

Question 31

partial adactyly

Answer 31

absenc of fingers/toes

Question 32

syndactyly

Answer 32

webbing or fussion of fingers

Question 33

disease and etiology

Answer 33

Crouzon Syndrome FGFR2 10q26

Question 34

Disease and genotype

Answer 34

Pfeiffer Syndrome FGFR1, 8p12 or FGFR2, 10q26

Question 35

Disease and genotype

Answer 35

Apert Syndrome FGFR2, 10q26

Question 36

Disease and genotype FGFR3, 4p16

Question 37

Diesease?

Answer 37

Angelman Syndrome

Question 38

Disease

Answer 38

Prader Willis

Question 39

Disease

Answer 39

Hypospadias

Question 40

Disease

Answer 40

Vit A

Question 41

Disease

Answer 41

FAS