Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
23 Cards in this Set
- Front
- Back
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?
|
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. |
|
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)
|
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
|
|
Scurvy
1 definition of condition; 2 genetic defct; 3 zone affect |
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
|
|
Scurvy
4 sx; (2) PE-I/P (3); Assoc conditions ; 5 xray findings; 6 Tx |
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
|
|
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)
|
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
|
|
Fibrous dysplasia
1 defition of condition; 2 genetic defct; 3 zone affect |
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
|
|
Diastrophic dysplasia
2 genetic defct; 4 Assoc; PE-I/P;2 ; 5 xray findings; (2) |
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)
|
|
Ochronosis (alkaptonuria)
2 genetic defct; 5 PE-I/P; (4) 4 xray findings; 1 |
2 defect in the homogentisic acid oxidase sys. marfanoid habitus; inferior lens dislocation; retardation; dx by homocystine in urine-black urine 4 Osteoporosis;
|
|
Type I collagen defects are responsible for the clinical manifestations of osteogenesis imperfecta. Mutation of what gene or genes are most responsible for this?
|
COL1A1/COL1A2 . OI-->abnormal collagen type I. Clinical manifestions include multiple fractures, blue sclera, and scoliosis. The genes collagen synthesis are COL1A1/COL1A2.
|
|
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?
|
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
|
|
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
|
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).
|
|
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
|
OI Type IV, which is caused by a qualitative defect in the synthesis of Type I collagen. genetic mutations of genes COL1A1 and COL1A2
|
|
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?
|
telescoping rod in the right femur and bowing of the L femur with coxa vara; a common finding in (OI).
|
|
osteopetrosis
1 defition of condition; 2 genetic defct; 3 zone affect |
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.
|
|
cleidocrainial dysplasia
1 defition of condition; 5 PE-I/P; |
dysplastic clavicles, characteristic of cleidocrainial dysplasia. hypermobility of shoulders
|
|
MED or SED multiple epiphyseal dysplasia / spondyloepiphyseal dysplasia
2 genetic defct; |
epiphyseal abnormalities found in multiple epiphyseal dysplasia (MED) or spondyloepiphyseal dysplasia (SED). mutation gene for cartilage oligomeric matrix protein, COMP
|
|
achondroplasia
4 xray findings; 5 PE-I/P; (3) |
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
|
|
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?
|
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
|
|
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?
|
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
|
|
accessory navicular Symptoms?
|
medial arch pain that is worse with overuse due to repeated microfracture at the synchondrosis or from inflammation of the posterior tibialis tendon insertion
|
|
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 |
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, |
|
Fibrous dysplasia
4 Sx-assoc; PE-I/P; |
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
|
|
Fibrous dysplasia
5 xray findings; (5) 5 1/2 histology 6 Tx |
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
|