Dealer's Choice
Genie In A Bottle
It's going TIBIA okay
Osseous Oddities
Getting handsy
100
What additional workup should be included in your evaluation of an infant with bilateral knee dislocations?
Cervical xray
(Larsen's Syndrome)
-Concern for spinal cord injury during intubation
Fusion recommended to be performed during the first 18 months of life to prevent neurological deterioration
100
Identify the disease & the associated pathologic finding:
COLA1
Half points for partial answers, other team can steal
Osteogenesis imperfecta
Olecranon avulsion fracture
100
This type of bowing is considered physiologic
Posteromedial i.e., genu valgum
100
Achondroplasia affects which part of the growth plate?
100pt bonus: name the mutated gene AND the effect of that mutation
Proliferative zone
FGFR3 - inhibits proliferation & terminal
differentiation of chondrocytes in growth plate
100
Name this deformity:
must be specific
Complex syndactyly
Most common complication: web creep
-early creep - necrosis of the tip of the dorsal quadrilateral flap and loss of full-thickness skin graft placed in the web
-late creep (adolescence) - discrepant growth between scar/skin graft and surrounding tissue during the growth spurt
200
Duchenne's muscular dystrophy is characterized by the (1) absence of what gene and (2) elevation in what lab marker?
Absent dystrophin; elevated creatinine phosphokinase (CPK)
200
PHEX
XL rickets
200
NF1 is associated with this direction of bowing
Anterolateral
Although the risk of fracture with the development of pseudarthrosis exists, the initial treatment consists of bracing through maturity. Narrowing of canal at site of fracture is important distinguishing factor from NAT
200
Name the associated syndrome and the altered gene:
Half points for partial answers, other team can steal
Shepards Crook deformity = Fibrous dysplasia; GNAS
200
Name this deformity and the finger finding that comes with it:
Half points for partial answers, other team can steal
Radial Clubhand (radial deficiency) + absent thumb
-AD
-Associated with: Holt-Oram; VACTERL; VATER
300
In patients with spinal muscular atrophy undergoing genetic testing, what is abnormality is seen and how can it be an indicator of progrnosis?
Survival motor neuron 1 (SMN-1) gene; all patients with SMA lack SMN-I protein severity of disease based on number of functional copies of SMN-II
-AR telomeric gene deletion
300
Name the associated syndrome AND inheritance pattern (must get both):
EXT
100pt bonus: what is the risk of progression to secondary chondrosarcoma?
MHE (Multiple Hereditary Exostosis) - AD
-Osteochondroma with 5-10% chance of becoming secondary chondrosarcoma, most commonly in pelvis
-EXT1 has most severe presentation (compared to 2 or 3)
300
Fibular hemimelia is associated with this direction of bowing
100 bonus points: what is the classic description of the ankle joint pathology associated with fibular hemimelia?
Anteromedial
-"ball and socket" ankle joint
-50% also have tarsal coalition
300
Name this pathology (be specific):
100pt bonus for each associated syndrome you can name
Calcaneonavicular coalition
-can be non-syndromic, autosomal dominant
Syndromic: Fibular hemimelia, Apert, FGFr- associated craniosynostosis
versus talocalcaneal coalition
300
Name the finding below and associated syndrome:
Half points for partial answers, other team can steal
Clinodactyly; Down's syndrome
Abnormal curvature, usually middle phalanx of small finger
400
This syndrome features hitchhikers thumb, cauliflower ears, patellar dislocation and life threatening spinal deformity?
100pt bonus: Identify the mutated gene
Diastrophic dysplasia
(severe cervical kyphosis and atlantoaxial instability)
Bonus: sulfate transporter gene
400
Identify the the mutated gene and the associated pathologic finding:
Multiple Epiphyseal Dysplasia (MED)
Half points for partial answers, other team can steal
1. COMP (COLA variants so rare they will not be tested)
2. Double layered patella
400
Identify the syndrome/disease
Infantile Blount's Disease
-Metaphyseal beaking
400
Absent thoracic pedicles are a key feature of this syndrome
Camptomelic dysplasia
-congenital dwarfism associated with potentially fatal respiratory insufficiency
- anteriorly bowed tibias with cutaneous dimpling, anterolaterally bowed femurs, thoracic kyphoscoliosis, hypoplastic scapulas,
400
Identify the syndrome associated with the following hand deformity:
Poland's syndrome
-unilateral chest wall hypoplasia
(absence of sternocostal head of pectoralis major)
-hypoplasia of the hand and forearm
-symbrachydactyly and shortening of middle fingers (absence or shortening of the middle phalanx) (simple complete syndactyly of the short digits)
500
For each embryologic signaling center:
(1)Identify the axis/direction of growth it controls and,
(2) associated signaling molecule
AER, ZPA, and PZ
hint: no associated molecule for PZ
(of course it's hard as heck, it's worth 1,000 points)
(I'll give you 100 consolation points for each grouping you get correct if you can't get all three)
AER - proximal to distal, FGF
ZPA - anterior to posterior, Shh
PZ - Dorsoventral axis
500
Identify the syndrome and the mutated gene:
Half points for partial answers, other team can steal
Apert Syndrome; FGFr2
-bilateral complex syndactyly of hands and feet
index, middle, and ring fingers most affected
-symphalangism
-premature fusion of cranial sutures (craniosynostosis) results in flattened skull and broad forehead (acrocephaly)
-hypertelorism (increased distance between paired body parts, as in wide set eyes)
-normal to moderately disabled cognitive function
-glenoid hypoplasia
-radioulnar synostosis
500
Fibular hemimelia is associated with this absence of the structure in 95% of patients
ACL
(also seen in PFFD)
500
Rib penciling is seen in this syndrome (must be specific)
NF1 (NF2 not associated with scoliosis)
Rib penciling: >3 ribs is poor prognostic factor (87% progressed significantly)
500
The following hand findings are called:
Symphalangism (failure of IP joint to differentiate)
AD - OR - Apert's;Poland's