Genetic Syndrome Images Flashcards

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1
Q

What syndrome is this?

A

Williams Syndrome

  • puffy eyes
  • flat midface
  • epicanthal folds
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2
Q

What syndrome does this child have?

A

Down Syndrome or Trisomy 21

  • epicanthal folds
  • upslanting palpebral fissures
  • flat nasal bridge
  • small ears
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3
Q

What syndrome does this child have?

A

Trisomy 13 or Patau

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4
Q

What syndrome is this finding associated with?

A

Trisomy 18

Rocker bottom feet

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5
Q

What syndrome does this child have?

A

Turner Syndrome

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6
Q

What syndrome does this child have?

A

DiGeorge Syndrome

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7
Q

What syndrome does this child have?

A

Wolf-Hirschorn Syndrome

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8
Q

What syndrome does this child have?

A

Wolf-Hirschorn Syndrome

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9
Q

What syndrome is this finding associated with?

A

WAGR

Aniridia

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10
Q

What syndrome does this child have?

A

Miller-Dieker Syndrome

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11
Q

What syndrome does this child have?

A

Smith-Magenis Syndrome

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12
Q

What syndrome does this child have?

A

Prader-Willi Syndrome

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13
Q

What syndrome does this child have?

A

Smith-Magenis Syndrome

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14
Q

What syndrome does this child have?

A

Angelman Syndrome

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15
Q

What syndrome does this child have?

A

Beckwith-Wiedemann Syndrome

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16
Q

What syndrome does this child have?

A

Fragile X syndrome

17
Q

What syndrome is this finding associated with?

A

Neurofibromatosis Type 1

Cafe-au-lait spot

18
Q

What syndrome is this finding associated with?

A

Neurofibromatosis Type 1

Neurofibromas

19
Q

What syndrome if this clinical finding associated with?

A

Tuberous Sclerosis

Ash leaf spots

20
Q

What syndrome is this clinical finding associated with?

A

Tuberous Sclerosis

Shagreen patch

21
Q

What syndrome is this clinical finding associated with?

A

Tuberous Sclerosis

Angiofibromas

22
Q

What syndrome does this child have?

A

Treacher Collins syndrome

23
Q

What syndrome does this child have?

A

Marfan Syndrome

24
Q

What syndrome does this patient have?

A

Cornelia de Lange Syndrome

25
Q

What syndrome is this clinical finding associated with?

A

CHARGE Syndrome

Coloboma

26
Q

What syndrome does this child have?

A

CHARGE

27
Q

What syndrome does this child have?

A

Achondroplasia

28
Q

What syndrome is this clinical finding associated with?

A

Osteogenesis Imperfecta

Blue sclera

29
Q

What syndrome does this child have?

A

Noonan Syndrome

30
Q

What syndrome does this child have?

A

Noonan Syndrome

31
Q

What syndrome does this child have?

A

Goldenhar Syndrome

32
Q

What syndrome does this child have?

A

Smith-Lemli Opitz Syndrome

33
Q

What syndrome does this child have?

A

Sotos Syndrome

34
Q

What syndrome does this child have?

A

Sotos Syndrome

35
Q

What syndrome does this child have?

A

Stickler Syndrome

36
Q

What syndrome does this child have?

A

Sturge-Weber Syndrome

37
Q

What syndrome does this child have?

A

Waardenburg syndrome

38
Q

What syndrome is this finding associated with?

A

Waardenburg syndrome

Heterochromia irides

39
Q

What syndrome does this child have?

A

Russell-Silver Syndrome