Abos Day 35 B 1-3 Not Finished

Front 1

11-yo girl has severe OI; thin bones & multiple fx. @ f/u scoli mother noticed 1 yr ago. no bck pain & is neurol. intact. x-rays: 42-deg R thoracic curve-->incr from 31-deg from 9 mth ago. What is the most appr manag.for her spinal deformity?

Back 1

Ans: Pos spinal fusion with instrumentation
Children with severe forms of OI and progressive scoliosis should be treated with posterior spinal fusion with instrumentation when the curve > 35 degrees.

Front 2

10yo girl has b/l knee xrays Fig A. Which of the following conditions is most likely present? 1(OI) 2 Ellis-van Creveld (EVC) syndrome/chondroectodermal dysplasia 3 Marfan syndrome 4 Caffey dz 5 Juv idiopathic arthritis (JIA)

Back 2

1 (OI);dense parallel bands in distal fem& prox tibial & fibular metaphyses. xrays ass long-term bisphosphonate use, MoA inc BMD ex. pamidronate, risedronate, alendronate, olpadronate, neridronate

Front 3

Scurvy
1 definition of condition; 2 genetic defct; 3 zone affect

Back 3

1 defcy of vit C, required for synthesis of collagen; 2 decr in chondroitin sulfate & impaired intracellular hydroxylation of collagen peptides; 3 widening zone of provisional calcftn physis & spongiosa metaphysis

Front 4

Scurvy
4 sx; (2) PE-I/P (3); Assoc conditions ; 5 xray findings; 6 Tx

Back 4

4 malaise & lethargy, spots skin, spongy gums, & bleeding mucous membres. assoc-limtg facts long-dist voyages; 5 dense band (White line of Frankl) growing metaphyseal end; 6 vit C-250mg qid x 1wk

Front 5

Which of the following pediatric congenital disorders is caused by a glycine substitution in the procollagen molecule? 1 Scurvy 2 OI 3 Fibrous dysplasia 4 Diastrophic dysplasia 5. Ochronosis (alkaptonuria)

Back 5

2 OI: defect-Collagen, type I, alpha 1, aka COL1A1 & COL1A2= abn. cross-link via a glycine sub procollagen molc. defect dec collagen secr, bone fragility (“wormian” bones), shrt stature, scoli, tooth def, hearing def, & lig. lax

Front 6

Fibrous dysplasia
1 defition of condition; 2 genetic defct; 3 zone affect

Back 6

1 nor bone-replaced w/ fibrous abn bone; 2 gene coding-> alpha subu GS alpha prtn->overprod cAMP-> overexpren-> c-fos->regulates prolif & diff Oblasts & Oclasts -> hypophosphatemia 3 medullary cavity filled w/ Fib Tssue

Front 7

Diastrophic dysplasia
2 genetic defct; 4 Assoc; PE-I/P;2 ; 5 xray findings; (2)

Back 7

2 mutation of a gene coding for a sulfate transport protein, DTDST gene. 4 prog deformitycauliflower ears, hitchhikers thumb, severe cervical kyphosis, ("twisted dwarf") rigid clubfeet (equinocavovarus)

Front 8

Ochronosis (alkaptonuria)
2 genetic defct; 5 PE-I/P; (4) 4 xray findings; 1

Back 8

2 defect in the homogentisic acid oxidase sys. marfanoid habitus; inferior lens dislocation; retardation; dx by homocystine in urine-black urine 4 Osteoporosis;

Front 9

Type I collagen defects are responsible for the clinical manifestations of osteogenesis imperfecta. Mutation of what gene or genes are most responsible for this?

Back 9

COL1A1/COL1A2 . OI-->abnormal collagen type I. Clinical manifestions include multiple fractures, blue sclera, and scoliosis. The genes collagen synthesis are COL1A1/COL1A2.

Front 10

An adol male w/ COL1A1 pres to ER with sx of unsteady gait & diff buttoning shirt. PE, when pt holds his fngrs extn & add, the small fing spon abd. Snap of the patient's dis mid finger leads to spon flex other fingers. What cause of the pt's sx?

Back 10

ans:Basilar invagination with associated central canal stenosis is the most likely cause.; myelopathy in a patient with Osteogenesis imperfecta (OI).olecranon apophyseal avulsion fx

Front 11

A mutation in the COL1A1 and COL1A2 genes is associated with all of the following manifestations EXCEPT: 1Basilar invagination;2 Webbed neck; 3 Olecranon apophyseal avulsion fractures; 4 Scoliosis 5 Discoloration of sclerae

Back 11

2 Webbed neck; Quantitative defects in Type I collagen result in less sev forms of OI. basilar invagination with tip of the odontoid & anterior arch of atlas are above Chamberlain line (white line) & clivus canal angle <150° (yellow line).

Front 12

12-yo w/hx numerous long bone fxs in the past. PE w/nor -apprg sclera, & dentin abn Fig A xray LE in Fig B. what Dx? 1 Vit D def 2 Abn osteoclast func 3 Qualitative def type I collgn synth 4 Mut fibroblast grow fac recpr 5 Def N-Ac-Gal-6 sulf sulf enzm

Back 12

OI Type IV, which is caused by a qualitative defect in the synthesis of Type I collagen. genetic mutations of genes COL1A1 and COL1A2

Front 13

A child has a genetic disorder-COL1A1 gene resulting in a dec prod of funt type I collagen. Which of the following radiographs is MOST consistent with his condition?

Back 13

telescoping rod in the right femur and bowing of the L femur with coxa vara; a common finding in (OI).

Front 14

osteopetrosis
1 defition of condition; 2 genetic defct; 3 zone affect

Back 14

1 metabolic bone dz 2^ defect osteoclastic resorption of immatre bone 2AD/AR enzymatic mutation leadg abn carbonic anhydrase funct osteoclasts 3 no bone resorp in Howship's lacunae.

Front 15

cleidocrainial dysplasia
1 defition of condition; 5 PE-I/P;

Back 15

dysplastic clavicles, characteristic of cleidocrainial dysplasia. hypermobility of shoulders

Front 16

MED or SED multiple epiphyseal dysplasia / spondyloepiphyseal dysplasia
2 genetic defct;

Back 16

epiphyseal abnormalities found in multiple epiphyseal dysplasia (MED) or spondyloepiphyseal dysplasia (SED). mutation gene for cartilage oligomeric matrix protein, COMP

Front 17

achondroplasia
4 xray findings; 5 PE-I/P; (3)

Back 17

4 lum lordosis & short pedicles, trident hands. abn pelvis with sm square iliac wings, horiz aceta roofs, & narrwg grt sciatic notch 5 relat nor-sized trunk, larg head, rhizomelic short limbs

Front 18

10yo boy sustained isolated inj Fige A. Immediate CR perfor in the ER with conscious sed. Post-red xray Fig B & post-red CT scan Fig C. What is the next appropriate step in mangt?

Back 18

Hip arthrotomy-postr apprh; postr hip dislctn, s/p-reduc xray assess jnt congruity & articular widening. Persistent jnt incong ML sft tiss interpos torn labrum; Since Pt w/ postr disl, GO posterior struct already disrupted. incr AVN

Front 19

18-yo male c/o painful prominence over his medl midfoot x 2 years. NSAIDs & orthotics failed. PE demonstrates a firm, nonmobile, tender bump medial midfoot no skin changes. xray fig A. Which is the best tx option?

Back 19

Surgical excision. no periosteal changes, bony destruction, or matrix present xray not 3 & 4 w/u of malignancy. Conservative measures 1st line treatment sx accessory navicular. Surgical for refractory TX

Front 20

accessory navicular Symptoms?

Back 20

medial arch pain that is worse with overuse due to repeated microfracture at the synchondrosis or from inflammation of the posterior tibialis tendon insertion

Front 21

1Shepherd's crook ground glass appearanceib
high dose calcitriol (1,25 dihydroxy vitamin D), bone marrow transplant
indications
autosomal recessive (infantile-malignant) form
interferon gamma-1beta
indications
autosomal dominant form

Back 21

dense bone & obliterated medullary canals, suggesting osteopetrosis; osteoclasts lack ruffled border; bone resorption is defective; dec blood cells may lead to anemia & inc susceptibility to infection; Erlenmeyer flask defm

classic "rugger jersey" spine lateral radiograph and illustration C shows the classic "erlenmeyer flask" distal femur radiograph,

Front 22

Fibrous dysplasia
4 Sx-assoc; PE-I/P;

Back 22

4- usually asymp & discovered incid. findg, may pain ->stress fx, 1 bone=monostotic 80%/ many bons= polystotic; cafe au lait spots- larger& irregular borders than neurofibromatosis;may w/ McCune-Albright synd

Front 23

Fibrous dysplasia
5 xray findings; (5) 5 1/2 histology 6 Tx

Back 23

5 cortical thing w/expnsle lesion, highly lytic ; ground glass apper, "punched-out"; Shepherd's crook; vertebral collapse & kyphoscoliosis 1/2 "alphabet soup"/ "chinese letters", woven bone no Oblastic rimmg 6 biphophonate-fosamax