Infancy And Childhood

Question 1

Represent primary errors of morphogenesis

Intrinsically abnormal developmental process

Answer 1

Malformation

Question 2

Extrinsic disturbance in morphogenesis

Answer 2

Disruption

Question 3

Extrinsic disturbance of development

Due to abnormal biomechanical forces

Answer 3

Deformation

Question 4

Most chromosomal disorder arises at what stage

Answer 4

Gametogensis

Question 5

What plays a critical role in the morphogenesis

Answer 5

Hedgehog signaling pathway

Question 6

Causes extremely high incidence of limb malformation

Answer 6

Thalidomide

Question 7

This stage is extremely susceptible to teratogens

Answer 7

3rd to 9th week

Question 8

This can cause holoprosencephaly and cyclopia

Answer 8

Cyclopamine

Question 9

Disrupts expression of the homebox proteins

Answer 9

Valporic acis

Question 10

Cleft lip and palate may due to deregulation of what signaling pathway

Answer 10

TGFB

Question 11

Common cause of RDS in newborn

Answer 11

Hyaline membrane disease

Question 12

Seen in RDS x ray film

Answer 12

Ground glass appearance

Question 13

Plays a role in pulmonary innate hose defense

Answer 13

SP- A and D

Question 14

Involved in the reduction of surface tension

Answer 14

SP- B and C

Question 15

Clinical features of Cystic Fibrosis

Answer 15

Chronic lung disease
Pancreatic insufficiency
Steatorrhea
Malnutrition
Hepatic cirrhosis
Intestinal obstruction
Male infertility

Question 16

What is the primary defect of cystic fibrosis

Answer 16

CFTR

Question 17

Cytstic fibrosis type 1

Answer 17

Defective protein synthesis

Question 18

Type 2 cystic fibrosis

Answer 18

Abnormal protein folding, processing and trafficking

Question 19

Type 3 cystic fibrosis

Answer 19

Defective regulation

Question 20

type 4 cystic fibrosis

Answer 20

Decreased conductance

Question 21

Type 5 cystic fibrosis

Answer 21

Reduced abundance

Question 22

Type 6 cystic fibrosis

Answer 22

Altered function in regulation of ion channel

Question 23

Most common tumor of infancy

Answer 23

Hemangioma

Question 24

What do you call flat larger lesions in hemangioma

Answer 24

Port wine stains

Question 25

This is the most frequently diagnosed tumor in infancy

Answer 25

Neuroblastoma

Question 26

Important diagnostic feature in neuroblastoma

Answer 26

VMA and HVA

Question 27

What syndrome is characterized by gonadal dysgenesis in the form of male pseudohermaphroditism

Answer 27

Denynsh- drash

Question 28

Characterized by organomegaly, macroglossia, hemihypertrophy, omphalocele and adrenal cytomegaly

Answer 28

Beckwith wiedemann syndrome

Question 29

Causes of prematurity ans fetal growth restriction

Answer 29

PPROM
Intrauterine infection
Structural abnormalities
Multiple Gestation

Question 30

Causes of FETAL GROWTH restriction

Answer 30

Fetal
Placental
Maternal