Infancy And Childhood Flashcards

(30 cards)

1
Q

Represent primary errors of morphogenesis

Intrinsically abnormal developmental process

A

Malformation

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2
Q

Extrinsic disturbance in morphogenesis

A

Disruption

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3
Q

Extrinsic disturbance of development

Due to abnormal biomechanical forces

A

Deformation

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4
Q

Most chromosomal disorder arises at what stage

A

Gametogensis

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5
Q

What plays a critical role in the morphogenesis

A

Hedgehog signaling pathway

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6
Q

Causes extremely high incidence of limb malformation

A

Thalidomide

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7
Q

This stage is extremely susceptible to teratogens

A

3rd to 9th week

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8
Q

This can cause holoprosencephaly and cyclopia

A

Cyclopamine

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9
Q

Disrupts expression of the homebox proteins

A

Valporic acis

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10
Q

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

A

TGFB

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11
Q

Common cause of RDS in newborn

A

Hyaline membrane disease

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12
Q

Seen in RDS x ray film

A

Ground glass appearance

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13
Q

Plays a role in pulmonary innate hose defense

A

SP- A and D

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14
Q

Involved in the reduction of surface tension

A

SP- B and C

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15
Q

Clinical features of Cystic Fibrosis

A
Chronic lung disease
Pancreatic insufficiency
Steatorrhea
Malnutrition
Hepatic cirrhosis
Intestinal obstruction
Male infertility
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16
Q

What is the primary defect of cystic fibrosis

17
Q

Cytstic fibrosis type 1

A

Defective protein synthesis

18
Q

Type 2 cystic fibrosis

A

Abnormal protein folding, processing and trafficking

19
Q

Type 3 cystic fibrosis

A

Defective regulation

20
Q

type 4 cystic fibrosis

A

Decreased conductance

21
Q

Type 5 cystic fibrosis

A

Reduced abundance

22
Q

Type 6 cystic fibrosis

A

Altered function in regulation of ion channel

23
Q

Most common tumor of infancy

24
Q

What do you call flat larger lesions in hemangioma

A

Port wine stains

25
This is the most frequently diagnosed tumor in infancy
Neuroblastoma
26
Important diagnostic feature in neuroblastoma
VMA and HVA
27
What syndrome is characterized by gonadal dysgenesis in the form of male pseudohermaphroditism
Denynsh- drash
28
Characterized by organomegaly, macroglossia, hemihypertrophy, omphalocele and adrenal cytomegaly
Beckwith wiedemann syndrome
29
Causes of prematurity ans fetal growth restriction
PPROM Intrauterine infection Structural abnormalities Multiple Gestation
30
Causes of FETAL GROWTH restriction
Fetal Placental Maternal