Abos Day 39 5/18 B 1-3

Front 1

4 yo G s/p buckle fx ulna & assoc rad hd disloc. CR in 110 flex (as swelling allows) & full supintn enhncs stability of inj how: 1 Tightg interss memb 2 Tighg bicps 3 Elimints plastic deformtn 4 Relaxes pronator quad 5. Protects-PIN

Back 1

tighteng inteross membr & relaxg biceps tendon. Monteggia fx=prox ulna w/ assoctd rad head dislocation. if ulna fx is incomplete (greenstick or buckle)- succssflly Tx'd w/ CR.Ans 1

Front 2

7yo G falls off of bike & injury in Fig A & B. All followg indctins surgical Tx Monteggia fxs EXCEPT: 1 Combo rad/ulnr fx w/rad hd dislctn is succssly CR; 2 Lat rad hd dislctn succfly redcd; 3 Ulnr commntn w/ ulnr shortg;

Back 2

4 1 wk post-red/castg xray loss rad hd redctn 5. Combnd rad/ulnr fx w/ rad hd disloc: Bado class basd direction rad hd disloc (1=ant, 2=post, 3=lat) Bado Type 4=both bone fx w/ rad hd disloc=surgy.Ans2

Front 3

How Tx this fx, name, why?

Back 3

monteggia fx, always surgery. bc its unstable fractures - unable to reduce radial head and maintain ulnar length in this both bone forearm fx.

Front 4

All of the following are assd w/ neurofibromatosis except:1 Smooth bordered café-au-lait spots; 2PM bowg tibia 3 Short, sharp dystrophic scoliosis; 4 Cutaneous neuromas; 5. AD transmission from mutated neurofibromin gene

Back 4

AL bowg (ass w/ pseudarthrosis) tibia-> neurofibromatosis & PM tibial bowg -> packg'g prob. during gestion;Café-au-lait spts-> smooth "coast of California" borders & rough "coast of Maine" spots -> McCune-Albright synd Ans 2

Front 5

heterozygous loss func muttn which followg genes result cleidocranial dysplasia? 1 BMP-2; 2 cAMP; 3 c-fos; 4 SOX-9;
5 RUNX2

Back 5

RUNX2, aka Cbfa-1, is a transcription factor associated with osteoblast differentiation; AD; CCD-> short statre, delayd closr cranl fontanls & sutures, Wormian bz, frontl bossg, supernumerry & late eruptg teeth, wde pub symp; Ans5

Front 6

3 yo boy w/ leg deform & multiple skin lesions. Lisch nodules were found on ophthalmologic exam. clinical photo & xrays Fig A & B. What inheritance pattern & mutation that encodes for dz.

Back 6

1 AD; mutation in NF1 gene codes neurofibromin prtn 2 AR; mutation in NF1 gene codes neurofibromin prtn
3 AD; mutation of FGFR3 recepter; 4. AR; mutation of FGFR3; 5AD; mutatn GS alpha protn; Ans (1)

Front 7

3yo B w/ forearm defrm. xray Fig A. Ophthalmologic exam shows Fig B. These finding are most consistent w/ dz? 1 Achondroplasia; 2 Fibrous dysplasia 3 OI; 4 Neurofibromatosis Type 1 5 Ollier's dz

Back 7

Ans 4. Neurofibromatosis Type 1;

Front 8

60yo M w/ hand cond Fig A. The mass is resected w/ gross path & histopathy Fig B & C. What is the altered genetic etiology condtn? 1. COMP 2. Fibrillin 3. Neurofibromin 4. COL2A15. RUNX2/CBFA1

Back 8

Neurofibromatosis type 1 (NF1); multiple cutaneous neurofibromas, & plexiform neurofibroma, which the characteristc "bag of worms" appearance, is pathognomonic for NF1.Ans 3

Front 9

3yo B w/ the skin lesion Fig A & leg deformity. xrays in Fig B. What is the most appropriate 1st step in tx:1 obser 2 bracg in total contact orthosis 3 IM nailg w/ BG; 4. free fibular graft from contral side 5. EX-fix Illizarov technque

Back 9

bracing in total contact orthosis, aka clamshell orthosis. ; AL tibial bowg. Neurofibromatosis is the MC cause of AL tibial bowg & congenital pseudoarthrosis of the tibia; If pt fx/pseudoarthrosis, then treat w/ surgery. Ans 2

Front 10

DX criteria for neurofibromatosis type I includes EXCEPT:1. 2 or more neurofibromas 2. 6 or more cafe-au-lait macules; 3. 2 or more Lisch nodules; 4. freckling on the plantar surface of the feet; 5. optic glioma

Back 10

freckling on the plantar surface of the feet Ans 4

Front 11

All of the following are clinical features of neurofibromatosis type I (NF-I) EXCEPT? 1. freckling in the axillae 2. optic glioma 3. 2 or more Lisch nodules 4. talipes equinus 5. cafe' au lait spots

Back 11

talipes equinus Ans 4

Front 12

neurofibromitosis mnemonic (ROSES)

Back 12

ROLANDO HALS :R-Relative (1st deg); O-Osseous fibromas; L-Lisch nodules eys; A-Axillry freckg; N-Neurofibromas; D-Dime siz cafe au lait spts >6 O-Optic gliomas; verucous H-Hyperplasia-tissues/organ/extrmty AL-AL bowg/Tibia S-Scoli;PsuedoArthrosis

Front 13

Neurofibromatosis ROLANDO HALS
1 defition of condition; 2 genetic defct; 3 MC genetic dz caused-

Back 13

1 dz neural crest org aff extrm & spine: 2 AD-->mut NF1 gene chrom 17q21-> neurofibromin protein-> neurofibromin deficicy incr-> Ras activity-> MAPK-> osteoclast function & survl; 3 MC gen dz caused->new mutat single gene

Front 14

8yo B w/ extreme sholdr motn & frontal bossg. CXR & AP pelvis. What most likely dx? 1 Cleidocranial dysplasia
2 Renal osteodystrophy; 3 Spondyloepiphyseal dysplasia tarda/SED; 4 Hypothyroidism; 5 b/l SCFE

Back 14

pelvic xray Fig B-failure pub symphs ossify & distinctive lateral notchg capital fem epiphysis. CD-> 1ly -bnz formd intramembrns ossificatn- facial bnz, cranm, clavicls, 2ly grwth retard, craniofacial abn, scoli, devel coxa vara/valga. Ans1

Front 15

Cleidocranial Dysostosis
1 defition of condition/caused by; 2 genetic defct/inheritance ; 4 PE-I/P; provc; n/v E; 5 xray findings; 6 Tx

Back 15

1 defect intramembrns ossifctn-> leads to failr formtn midline struct, hypoplastic/absent clavicles; 2 AD- RUNX2/CBFA1 muttn--> transcription factor regul Oblastic diffrntn

Front 16

Cleidocranial Dysostosis
4 PE-I/P; & 5 xray findings 3;

Back 16

4-hypermblty shouldrs-CXR; frontal bossg; hand defrms; PE- mid phals shortng; delayd formn permanent teeth; abn ROM @ hips- if severe coxa vara AP peilvs-> devel coxa vara/valga; Wormian bz, frontl bossg, lat skull

Front 17

Cleidocranial Dysostosis
6 Tx Wormian bones: mneumonic

Back 17

observation & IT osteotomy->indications->coxa vara with a neck shaft angle of less than 100 degreesWormian bones: PORKCHOPS P-pyknodysostosis, O- OI, C- cleidocranial dysplasia (absent distal clavicles, supernumerary teeth), H-hypothyroidism, P-pachydermoperiostosis, down’s –Syndrome

Front 18

what are the classic findings in cleidocranial dysostosis

Back 18

abnormal clavicle (absent or hypoplastic)
multiple epiphyses
wormian bones
open symphysis pubis