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Genetics > Skeletal dysplasia > Flashcards

Skeletal dysplasia Flashcards

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1
Q

Skeletal dysplasia

A

Category of disorders regarding abnormal bone and cartilage

General clinical features: short stature & limbs, macrocephaly, slow growth, bone deformities

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2
Q

Rhizomelia

Meso melia

Micromelia

A

Rhizomelia: short proximal segment

Mesomelia: short distal segment

Micromelia: both segments are short

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3
Q

5 ways to diagnose skeletal dysplasia

A

Medical history

family history (pedigree)

physical exam

radiograph

molecular analysis

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4
Q

How do you measure upper to lower body ratio? Is it high or low for people with skeletal dysplasia?

A

Upper body: top of head to pubic symphysis

Lower body: pubic symphysis to soles of feet

Higher ratio (upper body longer than lower body)

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5
Q

Arm span to height ratio in people with skeletal dysplasia

A

Disproportionately short arm span

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6
Q

What are the lethal common skeletal dysplasias?

A

Osteogenesis Imperfecta Type II

Achondrogenesis

Thanatophoric dysplasia

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7
Q

What are the nonlethal common skeletal dysplasias?

A

Achondropalsia

Hypochondroplasia

Osteogenesis Imperfecta Types I , III, IV

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8
Q

OI Type II

Mutation

Symptoms

A

AD mutation in the COL1A1 or COL1A2 gene

Fractures of varying ages/stages of healing present at birth*, minimal skull mineralization, platyspondyly (flat vertebral bodies), compression of long bones

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9
Q

Achondrogenesis

A

Can’t produce cartilage -> death by respiratory failure

Short limbs and ribs, short neck, flat vertebrae, underdeveloped bones

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10
Q

Thanatophoric dysplasia

A

AD mutation in FGFR3

Cloverleaf skull, bowed femur (telephone receiver femur), frontal bossing, midface hypoplasia, protruding eyeballs, micromelia, macrocephaly, narow thorax, brachydactyly (short fingers/toes), hypotonia (low muscle tone)

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11
Q

What 3 diseases are all AD mutations in the FGFR3 gene?

A

Thanatophoric dysplasia, Achondroplasia, Hypochondroplasia

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12
Q

Normal intelligence, life span, and reproduction, but

rhizomelia, macrocephaly, forntal bossing, and midface retrusion?

A

Achondropalsia - most common cause of disproportionate short stature

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13
Q

Intelluctual disability & epilepsy with

Short stature, disproportionately shor tlimbs, shor thands and feet, mild joint laxity, and macrocephaly

A

Hypochondroplasia

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14
Q

Cloverleaf skull, frontal bossing, midface hypoplasia, protruding eyeballs, bowed femur with

Micromelia, macrocephaly, narrow thorax, brachydactyly, hypotonia

A

Thanatophoric dysplasia

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15
Q

OI Types I, III, and IV, share fractures, dentinogenesis imperfecta (tooth probs), and hearing loss.

how do you differentiate between them?

A

Type I: least severe, non-deforming, blue sclerae

Type III: progressively deforming

Type IV: variable OI, deforming

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16
Q

Between 1, 2, 3, and 4, what’s the most severe to the least?

A

Most severe: 2 (lethal) > 3 > 4> 1

17
Q

What disease is this?

A

Thanatophoric dysplasia

AD mutation in FGFR3 gene

18
Q

What doesthe achondroplasia mutation in the FGFR3 gene do?

A

Gain of function mutation in the fibroblast growth factor receptor gene 3 –> suppresses chondrocyte proliferation/differentiation –> short limbs

19
Q

Meclozine is a drug that inhibits suppressors of chondrocyte prolfieration. This would help with which dysplasia?

A

Achondroplasia

20
Q

Normal head size/face, normal intelligence, hypermobile joints, bowed lower extremities

What is this?

A

Pseudoachondroplasia: AD mutation in COMP gene, with postnatal onset

21
Q

A newborn male with short stature and dysmorphic features has macrocephaly with frontal bossing, shortening of arms and legs. What is the molecular basis of this case?

A

Gain of function mutation

22
Q

Which is true about achondroplasia?

  • Low reproductive fitness
  • Narrowing of craniocervical junction is one of the complications
  • Endochondral ossification is unaffected
  • Increased risk of fractures
A
  • Narrowing of craniocervical junction is one of the complications
23
Q

What disease is this?

A

Achondroplasia: frontal bossing, short stature & limbs, high upper:lower body ratio, rhizomelia

24
Q

What disease is this?

A

OI type I (nonlethal)

25
Q
A

OI Type II (lethal)

Fractures is various stages of healing (Note the bone calluses where the fractures have started to heal)

Short ribs

Narrow thorax

26
Q

What does this mom have? What does this dad have?

A

Mom has achondroplasia

Dad has pseudoachondroplasia

Genetics (15 decks)

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