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Pathology > Pediatric Pathology > Flashcards

Pediatric Pathology Flashcards

1
Q

Define Congenital Anomalies

A

Anything present at birth.

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2
Q

Define Malformations.

A

Something that never could have been normal. Primary errors of morphogenesis. INTRINSICALLY abnormal development.

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3
Q

Define Deformations.

A

Secondary destruction of an organ. The structures could be normal, but an external force prevented it. Never is normal.

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4
Q

Define disruptions.

A

Secondary destruction of an organ. Breakdown of a PREVIOUSLY NORMAL structure.

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5
Q

Define Sequence

A

A cascade of anomalies triggered by one thing. The initiating event can be a malformation or a deformation.

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6
Q

Define syndrome.

A

A constellation of congenital anomalies that are pathologically related. Chromosomal abnormalities and single gene mutations. Down’s syndrome, Turner’s syndrome, etc.

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7
Q

Define agenesis.

A

Complete absence of an organ and it’s precurser. No stemcells formed.

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8
Q

Define aplasia.

A

Failure in development of a primordium resuluting in an absent organ. There were stem cells, they just didn’t progress.

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9
Q

What does -plasia refer to?

A

Numbers of cells.

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10
Q

What does -trophy refer to?

A

Size of cells, resulting in change of organ size

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11
Q

Define Atresia.

A

Specific to hollow organs. Absence of an opening.

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12
Q

What are some environmental etiologies?

A

Viruses, drugs, chemicals, radiation, maternal diabetes.

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13
Q

What are some genetic etiologies?

A

Chromosomal aberrations or gene mutations.

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14
Q

What are perinatal infections?

A

Passed from mother to baby. Early infections (Growth, mental, cataracts, heart defects. Late infections (encephalitis, choriorentinitis, hepatosplenomegaly, pneumonia, myocarditis)

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15
Q

What are the routes of perinatal infections?

A

Transplancental (hematologic) or transcervical (ascending)

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16
Q

What does TORCHES stand for?

A 
Toxoplams
Others
Rubella
Cytomegalovirus
HErpes
Syphilis
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17
Q

What are hutchison’s incisors?

A

A sign of congenital syphilis.

18
Q

What does 13-cis retinoic acid cause?

A

Malformations of the skull, face, limbs, eyes and CNS.

19
Q

What does Phenytoin casue?

A

It is a sodium channel modulator. Causes orofacial clefts and cardiac defects.

20
Q

What do folate antagonists cause?

A

Neural tube defects.

21
Q

What is Chiari I and II malformation?

A

Structural defects in the cerebellum, the part of the brain that controls balance.

22
Q

What are the main facial features of fetal alcohol syndrome?

A
  1. Thin upper lip
  2. Smooth philtrum (ridge on upper lip)
  3. Flat midface
  4. Short, upward nose.
  5. Prominent epicanthal folds (eyelids)
  6. Low nasal bridge.
23
Q

What does maternal diabetes cause?

A

Cardiac and CNS defects

24
Q

What is gastroschisis and what causes it?

A

Gut is outside of body with no membrane. Failure to seal. Multifactorial.

25
Q

What is omphalocele and what causes it?

A

Failure to bring gut back in. Covered in membrane. Multifactorial.

26
Q

What is the cleft lip sequence?

A

The lip is fused by 35 days gestation, but failure of lip fusion subsequently impairs closure of the palatal shelves. Other anomalies include tooth defects and failure of normal nasal ala formation.

27
Q

What are the notable mutations in an isolated cleft lip/cleft palate?

A

MSX1-Expressed in underlying mesenchyme.

PVR1 and IRF-6-Cell adhesion molecules of the palatal shelf epithelium

28
Q

What is the Van Der Woude Syndrome?

A

The lip pit-cleft lip syndrom.

CL/CP, Clef uvula, lower lip pits, absent central and lateral incisors, canines, or bicuspids.

29
Q

What is the mutation that causes the Van der Woude Syndrome?

A

Mutation in the IRF6 gene, chromosome 1, autosomal dominant inheritance.

30
Q

What is the Robin Sequence/Pierre Robin Syndrome

A

Initiating evens is hypoplasia of the mandible at less than nine weeks of gestation. Results in retrognathia.

31
Q

What is retrognathia?

A

Chin is brought back/retraction.

32
Q

What are the effects of the Robin Sequence/Pierre Robin Syndrome?

A

The bringing back of the mandible shifts the tongue posteriorly and inhibits closure of the posterior palatal shelves. Called GLOSSOPTOSIS. Rounded contour of the cleft. Can lead to airway obstruction.

33
Q

What is the Moebius Sequence?

A

Mask-like facies, micrognathia (small chin), VIth and VIIth CN hypoplasia, absence of central basal nuclei, hearing loss, mental impairment, limb reduction, hypotonia. (low muscle tone)

34
Q

What is the Frontonasal Dysplasia Sequence?

A

Median Cleft Face Syndrome.
Ocular Hypertelorism-Wide set eyes.
Cranium bifidum occultum with Widow’s peak-Huge forehead.
Broad nasal tip with variable nasal alae.
Can be associated with multiple CNS and limb abnormalities.

35
Q

What causes the Frontonasal Dysplasia Sequence?

A

Homozygous mutation in the ALX3 gene on chromosome 1p13. Hyperplasia of inferior frontonasal prominence, thus preventing fusion of the medial nasal prominences.

36
Q

What is Fraser Syndrome

A

Cryptophthalamos-Syndactyly Syndrome–>Hidden Eye, Fusion of Fingers.

Skin covers the eye, no eyelid.
Depressed frontal bone
Microcephaly and hydrocephalous.
Mental impairment.
Limb anomolies-(syndactyly, hypoplasia or digits)
Genital anomalies.
37
Q

Treacher Collins Syndrome

A

Mandibulofacial dysostosis.

Autosomal dominant. Mutations in TCOF1 on Ch5q31

38
Q

What are the signs of Treacher Collins Syndrome?

A 
Slanting palpebral fissures.
Malar hypoplasia
Clefted zygomatic
Absent lower eyelashes
Malformed auricles
External ear canal defects
Vision issues
Cleft palate.
Scalp hair on cheek.
39
Q

Miller-Dieker Syndrome

A

Lissencephaly Syndrome.

Deletion of 17p13.

40
Q

What comes with Miller Dieker Syndrome?

A 
Incomplete development of the brain.
Pachygyria and lissencephaly (lack of giration).
Hyoplastic corpus collosum.
Hypotonia
Microcephaly and bitemporal narrowing.
Protuberant upper lip.
Low set ears.
Wide alveolar ridge and late eruption of primary teeth.

Pathology (6 decks)

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