Congenital disorders Flashcards
1
Q
Gene assoc w/ radial deficiency
A
Sonic hedgehog
2
Q
Conditions assoc w/ radial deficiency
A
TAR (thrombocytopenia absent radius) Fanconi's anemia Holt-Oram syndrome VACTERL VATER Thumb hypoplasia
3
Q
Screening tests to get with radial deficiency
A
CBC
Renal U/S
Echo
4
Q
VACTERL
A
VB Anal atresia Cardiac TE fistula Renal Limb
5
Q
What is Madelung’s deformity
A
Disruption of ULNAR VOLAR DR physis
Tethering of Vickers ligament (R-L ligament)
Ulnar deviation at wrist
6
Q
Assoc w/ Poland syndrome
A
Chest wall hypoplasia Pec maj ABSENCE shortening of LF (P2 absent) Syndactyly Sprengel's deformity R-U synostosis
7
Q
Assoc w/ Apert syndrome
A
Complex syndactyly Wide set eyes Glenoid hypoplasia R-U synostosis Skull, forehead, facies (cranial synostosis)
8
Q
Apert syndrome inheritance
A
Autosomal dominant
9
Q
Mutation in Apert syndrome
A
FGFr2 gene
10
Q
Assoc w/ amniotic band syndrome
A
Clubfeet
11
Q
What is camptodactyly
A
PIP flexion deformity of SF
12
Q
What is clinodactyly
A
R-U curvature of digits
Seen in Down’s syndrome
13
Q
Most common type of pre-axial polydactyly (thumb)
A
Type 4
Duplicated phalanges, single MC
14
Q
who gets pre-axial polydactyly
A
Whites
15
Q
Who gets post-axial polydactyly
A
Af Americans
