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Musculoskeletal 3.1 > Msk 3 > Flashcards

Msk 3 Flashcards

1
Q

What mutation causes achondroplasia? On what chromosome?

A

FGFR3; 4p16.3

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1
Q

What mutation causes thanatophoric dysplasia?

A

Gain of function in FGR3 gene

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2
Q

The mutation of what gene causes Thanatophoric Dysplasia type II?

A

K650E

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3
Q

What type of osteogenesis imperfecta is lethal?

A

Type II

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4
Q

In achdonroplasia, are there associated changes in lifespan, intelligence, or reproductive status?

A

No.

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5
Q

AR, b-galactosidase deficiency Accumulation of keratan sulfate & chondroitin-6-sulfate

A

MPS IV B

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6
Q

Severe shortening of limbs, extra skin folds, small chest cavity, hypoplastic lungs, respiratory insufficiency, bell-shaped abdomen

A

thanatophoric dysplasia

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6
Q

AR, deficiency in b-glucuronidase (GUSB) Accumulation of heparan sulfate, chondroitin-4-sulfate, chondroitin-6-sulfate

A

MPS type VII: Sly syndrome

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8
Q

What do the mutations of CA2 (carbonic anhydrase) and CLCN7 (chloride channel 7) cause?

A

interference with process of acidification of the osteoclast resorption pit, required for dissolution of ca-hydorxyapatite

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8
Q

Why would osteopetrosis lead to anemia with subsequent extramedullary hematopoiesis in the spleen and liver (thus causing hepatosplenomegaly)?

A

Bone marrow gets clogged with bone? (Tegrity)

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9
Q

Type I thanatophoric dysplasia is characterized by

A

bowed, long bones

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10
Q

long extremities, tall, tapering fingers & toes, kyphosis, scoliosis, chest deformity (pectus excavatum or carinatum), cardiovascular lesions

A

marfan syndrome

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11
Q

MPS’s are deficiencies of an enzyme involved in the degradation of

A

glycosaminoglycans (GAGs)

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12
Q

How many types of osteogenesis imperfecta are there?

A
  1. Know them. 3.21!
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12
Q

Short stature, skeletal deformities as result of hyaline cartilage, hepatosplenomegaly, valvular lesions & subendothelial arterial deposits

A

MPSs

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13
Q

Which type of osteopetrosis is malignant?

A

Autosomal recessive form in utero or at birth 1:20,000/ AD is benign adolescence or adult 1:250,000

14
Q

Affected children appear normal at birth, year 1 develop course facial features, wide nasal bridge, flattened midface, HSM, hernias, dysotosis multiplex, corneal clouding

A

MPS type I: Hurler syndrome

15
Q

What mutation causes marfan syndrome?

A

Fibrillin-1 (FBN1) - 70-80% AD, mutations in FBN2 less common and give rise to congenital contractural arachnodactyly

16
Q

Type II thanatophoric dysplasia is characterized by

A

straight, long bones and cloverleaf skull

17
Q

Does achondroplasia affect the head? Why?

A

No. The axial skeleton remains relatively unaffected.

18
Q

What is the most lethal form of skeletal dysplasia?

A

Thanatophoric dysplasia 1:20,000 live births

19
Q

Disease of type I collagen

A

Osteogenesis imperfecta (aka brittle bone disease)

20
Q

AR, deficiency in a-L iduronidase (IDUA) Accumulation of heparin sulfate and dermatan sulfate

A

Severe form of MPS - type I: Hurler syndrome

21
Q

Lysosomal storage diseases, defined by a deficiency in a lysosomal enzyme, leads to accumulations within lysosomes.

A

Mucopolysaccharidoses (MPS)

22
Q

What is the basic abnormality in all forms of osteogenesis imperfecta?

A

Osteopenia - too little bone

24
Q

Risk for hydrocephalus, central apnea, and bowing of legs

A

Achondroplasia

26
Q

Fractures, blue sclera, deafness, teeth abnormalities

A

Osteogenesis imperfecta 3.20

27
Q

What is the mechanism behind achrondroplasia?

A

Constitutive activation of FGFR3 Excessive inhibition of cartilage proliferation at epiphysis Thus, decreased endochondral ossification

28
Q

XR, deficiency of iduronate-2-sulfatase (IDS) Accumulation of heparin sulfate and dermatan sulfate

A

MPS type II: Hunter syndrome

30
Q

Why doesn’t bone appear purple histologicially, when calcium stains purple?

A

Decalcied sample (removed ca-hydroxyapatitie) in order to make it thin enough for a slide

31
Q

The mutation of 4p16.3 is a ___________ mutation.

A

Gain of function, autosomal dominant

32
Q

What is the most common disease of the epiphyseal plate?

A

Achondroplasia - most common skeletal dysplasia 1:12,000 3.11

33
Q

Decreased bone resorption due to impaired formation or function of osteoclasts (sclerosis)

A

osteopetrosis (aka marble bone disease and albers-schonberg disease)

34
Q

What mutation occurs to cause osteogenesis imperfecta?

A

Autosomal dominant mutation in COL1A1 or COL1A2 (a1 or a2 chain of type I collagen) 3.19

35
Q

AR, mutation in gene encoding galactosamine-6-sulfatase (GALNS) Accumulation of keratan sulfate & chondroitin-6-sulfate

A

MPS IV A

36
Q

Disease of connective tissue, particularly elastic fibers

A

Marfan syndrome 1:5,000

Musculoskeletal 3.1 (14 decks)

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