Skeletal Abnormalities Flashcards

1
Q

Complete absence of one or more limbs

A

Amelia

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2
Q

Small irregularly shaped bone

A

Phocomelia

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3
Q

Consist of extra fingers or toes

A

Polydactyly

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4
Q

Abnormal fusion is usually restricted to finger or toes

A

Syndactyly

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5
Q

Consist of abnormal cleft between the second and fourth metacarpal bones and soft tissues

A

Cleft hand foot

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6
Q

Other name for cleft hand and foot

A

Lobster claw deformity

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7
Q

Absence of digit such as thumb

A

Ectrodactyly

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8
Q

Characterized by fusions of the carpal bones and small short digits

A

Hand foot genital syndrome

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9
Q

Synpolydactyly has mutations in what gene?

A

HOXD13

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10
Q

Other name for hand-foot-genital syndrome

A

Synpolydactyly

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11
Q

Clubfoot

A

Sole of the foot is turned inward;
Foot is adducted and plantar
(Usually acc. by synactyly)

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12
Q

Consists of underdevelopment of the acetabulum and head of femur

A

Congenital hip dislocation

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13
Q

Usually observed w/ malformations in other structures such as craniosynostosis and cranioschisis

A

Congenital absence/ Deficiency of the radius

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14
Q

May cause ring constrictions and amputations of the limbs or digits

A

Amniotic bands

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15
Q

Limbs vary greatly partially

A

Meromelia

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