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Boards Prep > Pediatric Pathology > Flashcards

Pediatric Pathology Flashcards

1
Q

This type of tumor is made up of cells from all three germ layers?

A

Teratoma

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2
Q

What characterizes Denys-Drash syndrome?

A

Gonadal dysgenesis

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3
Q

What are the symptoms of WAGR syndrome?

A

Wilms tumor, no irises, genitourinary abnormalities, intellectual disabilities

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4
Q

What symptoms are associated with Turner syndrome?

A

Streak ovaries, webbed neck, short stature, CV defects, hypothyroidism, protruding ears

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5
Q

What is the casuse of neonatal respiratory distress syndrome?

A

Immature surfactant production

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6
Q

What are common pediatric small round blue cell tumors?

A

Neuroblastoma, retinoblastoma, nephroblastoma (Wilms tumor)

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7
Q

What is Klinefelter syndrome?

A

An extra X chromosome in males, XXY

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8
Q

A baby is born with an open mouth and protruding tongue. They have a single crease across their hand and Brushfield spots. What is the likely diagnosis?

A

Trisomy 21 (Down Syndrome)

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9
Q

What gene is mutated in Cystic Fibrosis patients?

A

CFTR gene

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10
Q

Neuroblastomas most commonly appear where?

A

Near the adrenal glands

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11
Q

What is the cellular cause of cystic fibrosis?

A

Chloride channel defects

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12
Q

What is the most common teratoma of childhood?

A

Sacrococcygeal Teratoma

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13
Q

“Blueberry muffin baby” is associated with what type of cancer?

A

Neuroblastoma

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14
Q

What symptoms are associated with Sturge-Weber syndrome?

A

Port wine stains, seizures, developmental delays, glaucoma

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15
Q

A collection of fluid under the skin behind the fetal neck is called…?

A

Nuchal Translucency (NT)

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16
Q

What is the difference between malformations and deformations?

A

Malformations occur due to errors in development. Disruptions occur after development and are due to extrinsic disturbances

17
Q

True/False. Most hemangiomas regress by the age of 10.

A

True

18
Q

What is a defining feature of Sturge-Weber syndrome?

A

Port wine stains

19
Q

Babies born before what week are pre-term?

A

37 weeks

20
Q

True/False. Sacrococcygeal tumors present around age 2.

A

False. They are present at birth and require surgical intervention for removal.

21
Q

What is the most common cause of deformation?

A

Uterine constraint

22
Q

Organomegaly, macroglossia, and omphalocele are characteristics of…?

A

Beckwith-Wiedemann Syndrome

23
Q

What is the cause of Cru-du-chat?

A

Deletion in the short arm of chromosome 5

24
Q

What symptoms are associated with Trisomy 18 (Edward’s Syndrome)?

A

Microcephaly, micrognathia (small jaw), rocker-bottom feet

25
Q

What are the causes of fetal hydrops?

A

Rh incompatibility, fluid accumulation

26
Q

White pupils are associated with what cancer?

A

Retinoblastoma - mutation of one Rb allele

27
Q

A baby is born and the physician notes a distinctive “cat’s cry.” Further examination reveals wide-set eyes and a wide, flat nasal bridge. The physician suspects what disorder?

A

Cru-du-chat

28
Q

Isolated cleft lip and/or palate is an example of…?

A

Mutifactoral inheritence - disturbances in gene expression that run in families

29
Q

What is Fragile X?

A

An unstable trinucleotide repeat in the X chromosome of a male. Patients present with long face, large mandible, large ears, and large testicles

30
Q

A patient is born with a flattened face, clubbed feet, and hypoplastic lungs. What is the diagnosis?

A

Potter Sequence

31
Q

During what timeframe is an embryo most susceptible to teratogens?

A

3rd - 9th weeks

32
Q

Gynecomastia and infertility are associated with what genetic disorder?

A

Klinefelter syndrome (XXY)

33
Q

Cleft lip, microphthalmia, and polydactyl are associated with what chromosomal abnormality?

A

Trisomy 13 (Patau Syndrome)

34
Q

What is the most common chromosomal disorder?

A

Trisomy 21 (Down Syndrome)

35
Q

After genetic testing, it is revealed a female-presenting child is missing an X chromosome. What is the diagnosis?

A

Turner syndrome (X)

36
Q

What is Potter Sequence?

A

Decreased amniotic fluid often due to leakage of amniotic fluid of renal agenesis

37
Q

What is a tumor of a blood vessel called?

A

Hemangioma

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