Key Feautres: Ciliopathies, Hemoglobinopathies, Coag Flashcards

1
Q

Bardet-Biedl

A

Polydactyly, retinitis pigmentosa, renal problems

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2
Q

Joubert

A

Molar tooth sign on MRI

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3
Q

Meckel-Gruber

A

Renal cystic dysplasia, lethal in utero

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4
Q

Hemophilia

A

Excessive bleeding

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5
Q

Factor V

A

Excessive clotting

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6
Q

Von Willebrand

A

Easy bruising/bleeding

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7
Q

OI

A

Brittle bones/easy fracturing

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8
Q

OI Type II

A

Severe perinatal lethal

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9
Q

Alpha-Thal

A

Hydrops fetalis, HbH disease, microcytic hypochromic anemia

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10
Q

Beta-Thal

A

Mycrocytic hypochromic anemia, bone deformities

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11
Q

Sickle Cell

A

Sickle cell crises, acute chest syndrome, dactylitis

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