Module 3 Extra Curricular Flashcards

1
Q

What are the symptoms of Ehlers-Danlos type 1 and 2 (classical)

A

Skin and joint hypermobility
Atrophic scars
Easy bruising

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2
Q

What are the symptoms of Ehlers-Danlos type 6 (ocular or kyphoscoliosis)

A

Hypotonia
Joint laxity
Congenital scoliosis
Ocular fragility

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3
Q

What are the symptoms of Ehlers-Danlos type 7a and 7b (anthrochalasia)

A

Severe joint hypermobility
Mild skin deformities
Scoliosis
Bruising

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4
Q

What are the symptoms of Ehlers-Danlos type 7c (dermatosparaxis)

A

Severe skin fragility
Cutis laxa (loose skin)
Occipital horn syndrome

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5
Q

What are the symptoms of Ehlers-Danlos type 4 (arterial or vascular)

A

Thin skin
Arterial or uterine rupture
Bruising
Small joint hyperextensibility

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6
Q

What are the symptoms of Ehlers-Danlos type 3

A

Joint hypermobility
Pain
Dislocations

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7
Q

What causes Ehlers-Danlos syndrome type 7c (dermatosparaxis)

A

Autosomal recessive mutation in procollagen N-peptidase

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8
Q

What causes Ehlers-Danlos syndrome type 7a and 7b (anthrochalasia)

A

Autosomal dominant mutations in COL1A1 and COL1A2

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9
Q

What causes Ehlers-Danlos syndrome type 6 (ocular or kyphoscoliosis)

A

Autosomal recessive mutation in PLOD1 causing lysyl hydroxylase deficiency

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10
Q

What causes Ehlers-Danlos syndrome type 4 (arterial or vascular)

A

Autosomal dominant mutation in COL3A1

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11
Q

What causes Ehlers-Danlos syndrome type 3

A

Autosomal dominant mutation in currently unknown gene

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12
Q

What causes Ehlers-Danlos syndrome type 1 and 2 (classical)

A

Autosomal dominant mutations of COL5A1 and COL5A2

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13
Q

What causes Lobstein type 4

A

Short pro-α2

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14
Q

Symptoms of Lobstein type 3

A

Progressive deformities
Growth retardation
Multiple fractures
Progressive kyphoscoliosis
*Compatible with survival

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15
Q

Symptoms of Lobstein type 4

A

Moderate fragile bones
Short stature
Postnatal fractures
Normal sclera
*Compatible with survival

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16
Q

What causes Lobstein type 3

A

Altered structure of pro-α2

17
Q

Symptoms of Lobstein type 2

A

Perinatal lethal
Characteristic facial features
Dark sclera
Beaked nose
Soft calvarium

Severe form

18
Q

What causes Lobstein type 2

A

Abnormal pro-α1 and pro-α2

19
Q

Symptoms of Lobstein type 1

A

Postnatal fractures
Blue sclera
Normal stature
Hearing loss
Fragile bones

20
Q

What causes Lobstein type 1

A

Decreased synthesis of pro-α1 and abnormal pro-α1 or pro-α2