Infancy And Childhood Flashcards

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

A

CFTR

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

A

Hemangioma

24
Q

What do you call flat larger lesions in hemangioma

A

Port wine stains

25
Q

This is the most frequently diagnosed tumor in infancy

A

Neuroblastoma

26
Q

Important diagnostic feature in neuroblastoma

A

VMA and HVA

27
Q

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

A

Denynsh- drash

28
Q

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

A

Beckwith wiedemann syndrome

29
Q

Causes of prematurity ans fetal growth restriction

A

PPROM
Intrauterine infection
Structural abnormalities
Multiple Gestation

30
Q

Causes of FETAL GROWTH restriction

A

Fetal
Placental
Maternal