Key Feautres: Ciliopathies, Hemoglobinopathies, Coag Flashcards
1
Q
Bardet-Biedl
A
Polydactyly, retinitis pigmentosa, renal problems
2
Q
Joubert
A
Molar tooth sign on MRI
3
Q
Meckel-Gruber
A
Renal cystic dysplasia, lethal in utero
4
Q
Hemophilia
A
Excessive bleeding
5
Q
Factor V
A
Excessive clotting
6
Q
Von Willebrand
A
Easy bruising/bleeding
7
Q
OI
A
Brittle bones/easy fracturing
8
Q
OI Type II
A
Severe perinatal lethal
9
Q
Alpha-Thal
A
Hydrops fetalis, HbH disease, microcytic hypochromic anemia
10
Q
Beta-Thal
A
Mycrocytic hypochromic anemia, bone deformities
11
Q
Sickle Cell
A
Sickle cell crises, acute chest syndrome, dactylitis