Buzzwords for Syndromes Flashcards
1
Q
Cherry red spot (eye finding)
A
Tay Sachs
2
Q
Madelung deformity (abnormality of the wrist and forearm bones)
A
Langer mesomelic dysplasia (caused by mutations in the SHOX genes)
3
Q
Molar tooth sign (MRI)
A
Joubert syndrome
4
Q
Lemon & Banana sign
A
Arnold-Chiari malformation - neural tube defect
5
Q
Lip Pits
A
van der Woude
