definitions Flashcards

1
Q

What is skeletal dysplasia?

A

A generalised developmental disorder of bone and cartilage which produces skull, spine and limb abnormalities

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2
Q

What is Rhizomelic?

A

Proximal short limb segment

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3
Q

What is Mesomelic?

A

Middle short limb segment

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4
Q

What is Acromelic?

A

Distal short limb segment

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5
Q

What is Camptylodactyly?

A

Congenital digital fixed flexion deformity

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6
Q

What is Clindodacytyl?

A

Congenital digital inclination deformity

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7
Q

What is brachydacytyl?

A

Congenital digital shortening

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8
Q

What is Syndactyly?

A

Congenital digital fusion

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9
Q

What is Arachnodactyly?

A

Spider finger MC index height/width > 8.4

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10
Q

What is polydacytly?

A

Congenital digital duplication

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11
Q

What is osteogenesis imperfecta?

A

A skeletal dysplasia with abnormal bone density colloquially called brittle bone disease

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12
Q

What is Genotype?

A

Genetic profile of an individual

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13
Q

What is phenotype?

A

Physical manifestation of a particular genotype

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14
Q

What is Juvenile Idiopathic arthritis ?

A

A child <16 yrs old with persistent arthritis in one or more joints for greater than 3 months after the exclusion of the differential dx ( infection, malignancy, blood dyscrasias, psoriatic arthropathy, ankylosing spondylitis)

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15
Q

What is osteomalacia/ rickets?

A

A skeletal disease in which there is inadequate mineralisation of bone.There is Qualitative not quantitative bone loss

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16
Q

What is cerebral palsy?

A

A disorder of movement and posture caused by a static lesion in the developing brain < 2yrs

17
Q

What is spasticity?

A
18
Q

What is neurofibromatosis?

A
19
Q

What is spina bifida?

A