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Y4R1 - Pediatrics I 👶 > L6: Dysmorphic Disorders > Flashcards

L6: Dysmorphic Disorders Flashcards

1
Q

Def of Dysmorphology

A
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2
Q

Pathogenic Mechanisms of Dysmorphology

A

Malformation, Deformation, Disruption & Dysplasia

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3
Q

Def of Malformation

A
  • Early arrest or misdirection of normal development of an organ or a part of an organ.
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4
Q

Causes of Malformation

A

It results from an intrinsic abnormal developmental process.

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5
Q

Types of Malformation

A
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6
Q

Examples of Malformation

A
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7
Q

Def of Deformation

A
  • Abnormal form, shape or position of part of body which has differentiated normally.
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8
Q

Causes of Deformation

A

It results from mechanical forces (extrinsic defect).

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9
Q

Examples of Deformation

A
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10
Q
  • Developmental defect isn’t essentially detectable at birth but develops later and still genetically determined.
A

…

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11
Q

Def of Disruption

A

A morphologic defect of an organ or a part of an organ or a larger region of the body.

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12
Q

Causes of Disruption

A
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13
Q

Results of Disruption

A
  • If it occurs early during gestation → atresia
  • If it occurs later in gestation → necrosis
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14
Q

Examples of Disruption

A
  • Cerebral & cerebellar infarction
  • Intestinal atresia (not duodenal)
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15
Q

Def of Dysplasia

A

It is a structural defect.

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16
Q

Causes of Dysplasia

A
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17
Q

Results of Dysplasia

A

It affects just one general tissue type throughout the body

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18
Q

Examples of Dysplasia

A
  • Storage diseases (e.g., mucopolysaccharidoses).
  • Ectodermal Dysplasia with involvement of skin, hair, nail & teeth.
  • Osteogenesis imperfecta: All parts of the skeleton are affected
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19
Q

Difference between:

  • Disruption and deformation
  • Disruption and malformation
A
20
Q

Types of Birth Defects

A
  • Major versus Minor anomalies
  • Isolated versus Multiple anomalies
21
Q

Major versus Minor anomalies

A
22
Q

Def of Major Anomalies

A
23
Q

Examples of Major Anomalies

A
  • Cleft lip
  • Pyloric stenosis
  • VSD
  • Down syndrome
24
Q

Percentage of Major Anomalies

A

3% of newborns

25
Q

Def of Minor Anomalies

A

Abnormalities that are of primarily cosmetic significance.

26
Q

Examples of Minor Anomalies

A
  • Clinodactyly of the 5th finger
  • Preauricular tag
  • Epicanthal folds
27
Q

Percentage of Minor Anomalies

A

14% of newborns

28
Q

Isolated versus Multiple anomalies

A
29
Q

Def of Isolated Anomalies

A

Anomalies that affect only a single body site.

30
Q

Incidence of Isolated Anomalies

A

About 2/3 of major anomalies are isolated

31
Q

Examples of Isolated Anomalies

A
  • Cleft lip + palate
  • Pyloric stenosis
  • Congenital heart disease
32
Q

Def of Multiple Anomalies

A
  • Anomalies that affect multiple sites and have different causes & prognosis
33
Q

Examples of Multiple Anomalies

A
  • The possible combinations of anomalies are limitless.
  • But, as a role, ≥ 2 major anomalies are usually associated with several minor anomalies.
34
Q

Etiologies of congenital anomalies

A
35
Q

Genetic Causes of congenital anomalies

A
  • Chromosomal Abnormalities
  • Single Gene Defect
  • Multi-Factorial Inheritance
36
Q

Genetic Causes of congenital anomalies

  • Chromosomal Abnormalities
A
37
Q

Genetic Causes of congenital anomalies

  • Single Gene Defect
A
38
Q

Genetic Causes of congenital anomalies

  • Multi-Factorial Inheritance
A
39
Q

Environmental Causes of congenital anomalies

A
40
Q

Unknown Causes of congenital anomalies

A
  • No near cause can be established.
  • Risk of recurrence is very low.
41
Q

Dx Approach for a child with congenital anomalies

  • Hx
A
42
Q

Dx Approach for a child with congenital anomalies

  • Ex
A
43
Q

Dx Approach for a child with congenital anomalies

  • INVx
A
44
Q

Investigations for a child with congenital anomalies

  • Chromosomal analysis
A
45
Q

Investigations for a child with congenital anomalies

  • Rad
A

Skeletal dysplasia, cardiac & renal anomalies.

46
Q

Investigations for a child with congenital anomalies

  • Autopsy
A

Should be encouraged if the child has died, in order to:
- define the full extent of anomalies.
- establish the cause of death.

Y4R1 - Pediatrics I 👶 (28 decks)

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