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Paediatrics FRCS > Skeletal dysplasia > Flashcards

Skeletal dysplasia Flashcards

1
Q

define dysplasia

A

abnormal development

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2
Q

Genetic defect for ACHONDROPLASIA

A

FGFR3

AD (though 80% sporadic)

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3
Q

Genetic defect for HYPOCHONDROPLASIA

A

FGFR3

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4
Q

Genetic defect for PSEUDOACHONDROPLASIA

A

COMP

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5
Q

Genetic defect for MULTIPLE EPIPHYSEAL DYSPLASIA (MED) TYPE 1

A

COMP

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6
Q

Genetic defect for MULTIPLE EPIPHYSEAL DYSPLASIA (MED) TYPE 2

A

type IX collagen

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7
Q

Genetic defect for SPONDYLOEPIPHYSEAL DYSPLASIA (SED)

A

Type II collagen

Congenita: AD + more severe

Tarda: X-linked Recessive

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8
Q

Genetic defect for KNIEST SYNDROME

A

Type II collagen

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9
Q

Genetic defect for STICKLER SYNDROME (HEREDITARY ARTHRO-OPTHALMOPATHY)

A

Type II collagen

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10
Q

Genetic defect for DIASTROPHIC DYSPLASIA

A

Sulfate transporter gene
- DTDST gene (SLC26A2) on chromosome 5

AD

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11
Q

Genetic defect for SCHMID METAPHYSEAL CHONDRODYSPLASIA

A

Type X collagen

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12
Q

Genetic defect for JANSEN METAPHYSEAL CHONDRODYSPLASIA

A

PTHRP

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13
Q

Genetic defect for CRANIOSYNOSTOSIS

A

FGFR2

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14
Q

Genetic defect for CLEIDOCRANIAL DYSPLASIA

A

CBFA1

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15
Q

Genetic defect for HYPOPHOSPHATEMIC RICKETS

A

PEX

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16
Q

Genetic defect for MARFAN SYNDROME

A

Fibrillin-1

17
Q

Genetic defect for OSTEOGENSESIS IMPERFECTA

A

Type I collagen

18
Q

Genetic defect for EHLERS- DANLOS SYNDROME

A

Types 1 + 2: Type V collagen

Type 4: type IV collagen

Types VI + VII: Type I collagen

19
Q

Genetic defect for DUCHENNE / BECKER MUSCULAR DYSTROPHY

A

Dystrophin

20
Q

Genetic defect for LIMB GIRDLE DYSTROPHIES

A

sarcoglycan + dystroglycan complex

21
Q

Genetic defect for CHAROT-MARIE-TOOTH (CMT) SYNDROME

A

PMP22 on chromosome 17

AD

22
Q

Genetic defect for SPINAL MUSCULAR ATROPHY

A

survival motor neuron protein

23
Q

Genetic defect for MYOTONIC DYSTROPHY

A

myotonin

24
Q

Genetic defect for FRIEDRICH ATAXIA

A

Frataxin

25
Q

Genetic defect for NEUROFIBROMATOSIS

A

Neurofibromin on chromosome 17

Paediatrics FRCS (1 decks)

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