Congenital disorders Flashcards
Gene assoc w/ radial deficiency
Sonic hedgehog
Conditions assoc w/ radial deficiency
TAR (thrombocytopenia absent radius) Fanconi's anemia Holt-Oram syndrome VACTERL VATER Thumb hypoplasia
Screening tests to get with radial deficiency
CBC
Renal U/S
Echo
VACTERL
VB Anal atresia Cardiac TE fistula Renal Limb
What is Madelung’s deformity
Disruption of ULNAR VOLAR DR physis
Tethering of Vickers ligament (R-L ligament)
Ulnar deviation at wrist
Assoc w/ Poland syndrome
Chest wall hypoplasia Pec maj ABSENCE shortening of LF (P2 absent) Syndactyly Sprengel's deformity R-U synostosis
Assoc w/ Apert syndrome
Complex syndactyly Wide set eyes Glenoid hypoplasia R-U synostosis Skull, forehead, facies (cranial synostosis)
Apert syndrome inheritance
Autosomal dominant
Mutation in Apert syndrome
FGFr2 gene
Assoc w/ amniotic band syndrome
Clubfeet
What is camptodactyly
PIP flexion deformity of SF
What is clinodactyly
R-U curvature of digits
Seen in Down’s syndrome
Most common type of pre-axial polydactyly (thumb)
Type 4
Duplicated phalanges, single MC
who gets pre-axial polydactyly
Whites
Who gets post-axial polydactyly
Af Americans
Most common digit for macrodactyly
IF
Most common hand soft tissue malignancy
Squamous cell CA
Most common benign hand tumor
Enchondroma
Most common hand bone malignancy
Metastatic lung CA
