Miklós Szendrői Frnklin H. Sim (Eds.) Color Atls of Clinicl Orthopedics
Miklós Szendrői Frnklin H. Sim (Eds.) Color Atls of Clinicl Orthopedics
Miklós Szendrői Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest Hungry Frnklin Sim Myo Clinic 200 First Street SW Rochester, MN 55905 USA ISBN 978-3-540-85560-6 e-isbn 978-3-540-85561-3 DOI 10.1007/978-3-540-85561-3 Springer Dordrecht Heidelerg London New York Lirry of Congress Control Numer: 2009926318 Springer-Verlg Berlin Heidelerg 2009 This work is suject to copyright. All rights re reserved, whether the whole or prt of the mteril is concerned, specificlly the rights of trnsltion, reprinting, reuse of illustrtions, recittion, rodcsting, reproduction on microfilm or in ny other wy, nd storge in dt nks. Dupliction of this puliction or prts thereof is permitted only under the provisions of the Germn Copyright Lw of Septemer 9, 1965, in its current version, nd permission for use must lwys e otined from Springer. Violtions re lile to prosecution under the Germn Copyright Lw. The use of generl descriptive nmes, registered nmes, trdemrks, etc. in this puliction does not imply, even in the sence of specific sttement, tht such nmes re exempt from the relevnt protective lws nd regultions nd therefore free for generl use. Product liility: The pulishers cnnot gurntee the ccurcy of ny informtion out dosge nd ppliction contined in this ook. In every individul cse the user must check such informtion y consulting the relevnt literture. Cover design: Frido Steinen-Broo, estudio Clmr, Spin Printed on cid-free pper Springer is prt of Springer Science+Business Medi (www.springer.com)
Prefce The evlution of musculoskeletl disorders is often prolemtic ecuse of the vriety of diseses nd dignostic complexity. This is compounded y the incresing speciliztion in this field. While vriety of recent textooks give comprehensive coverge of these disorders, this color tls is intended to provide succinct guide to evlution nd tretment. The tls is orgnized into sections ccording to dignosis. The text is rief nd gives concise informtion on the clinicl fetures, rdiogrphic chrcteristics nd pthologicl fetures tht re importnt for the dignosis. The reder will pprecite the mny illustrtions demonstrting the chrcteristic fetures of musculoskeletl disorders. The tls includes more thn 600 clinicl photogrphs of ptients, 710 rdiogrphs, 272 MRI nd CT illustrtions, 128 intr-opertive nd surgicl photogrphs, nd 73 microphotogrphs which help to understnd the sic chrcteristics of more thn 250 orthopedic disorders. This tls offers strting point for orthopedic, rdiology, nd pthology residents. Furthermore, it emphsizes tem pproch nd should e ttrctive to the clinicin, the rheumtologist, the rdiologist, nd pthologist nd offer them the opportunity to fmilirize themselves with nd enhnce their dignostic cumen of these musculoskeletl conditions. This tls of clinicl orthopedics is joint effort from two lrge institutions, the Orthopedic Deprtment of Semmelweis University (Hungry) nd the musculoskeletl tumor center of Myo Clinic (USA), oth of which hve extensive experience in the different res of musculoskeletl diseses. It is the hope of the uthors tht this tls will prove eductionl nd e resource tht will ssist doctors in the cre of their ptients. Miklós Szendrői Frnklin H. Sim
Acknowledgments I wish to express my grtitude to the collegues nd medicl stff of the Orthopedic Deprtment of the Semmelweis University who contriuted to the mteril of this Atls with their own cse presenttions, excellent photogrphs nd rdiogrphs. My det of grtitude goes to Dr. András Vjd for the trnsltion of the text from Hungrin to English. My specil thnks for the efforts nd skillful help of our medicl photogrpher Mr. Péter Kovács, who mde the gret mjority of the excellent gross photogrphs nd reproduced the rdiogrphs nd photomicrogrphs. The finl preprtion of the mnuscript ws mde possile y the invlule work of Mrs J. Dróczi nd Miss M. Alex. I owe specil cknowledgment to the editors of the Semmelweis nd Medicin pulisher compnies for grnting permission to reproduce some illustrtive mteril from my ooks pulished y them erlier. I m lso gretly indeted to the stff memers nd pulishers of Springer for their creful ttention to this Atls, especilly to Mrs G. Schröder, Mrs I. Bohn, Mr. C.-D. Bchem nd Mr. T. Reichenthler for their untiring efforts. Miklós Szendrői
Contents Chpter 1 Common Bone Dysplsis nd Mlformtions............................ 1 S. Kiss, T. Vízkelety, K. Köllő, T. Tereessy, G. Holnpy, G. Szőke Chpter 2 Infection..................................... 53 Á. Zhár nd K. Köllő Chpter 3 Rheumtoid Arthritis nd Relted Diseses..... 85 I. Böröcz nd M. Szendrői Chpter 4 Neurogenic Osteorthropthy (Chrcot s Joint ).............................. 103 A. Deli nd M. Szendrői Chpter 5 Stress Frctures (Ftigue Frctures, Mrsh-Frctures).............................. 111 M. Szendrői Chpter 6 Hemophili................................... 115 L. Brth Chpter 7 Metolic nd Endocrine Diseses.............. 121 P. Somogyi, A. Deli, nd M. Szendrői Chpter 8 Bone Tumors................................. 145 F. Sim, R. Esther, nd D.E. Wenger Chpter 9 Soft Tissue Tumors............................ 191 F. Sim, R. Esther, nd D. E. Wenger Chpter 10 Synovil Neoformtion nd Tumors............. 201 F. Sim, R. Esther, nd D.E. Wenger Chpter 11 Tumor-like Lesions of Bone.................... 209 F. Sim, R. Esther, nd D.E. Wenger Chpter 12 Connective Tissue Disorders................... 231 G. Holnpy nd M. Szendrői Chpter 13 Peditric Orthopedicss........................ 241 G. Szőke, S. Kiss, T. Tereessy, nd G. Holnpy Chpter 14 Neck, Chest, Spine nd Pelvis.................. 285 J. Lktos, K. Köllő, G. Skliczki, nd G. Holnpy Chpter 15 Shoulder, Upper Arm......................... 315 J. Kiss, G. Skliczki Chpter 16 Elow, Forerm............................... 337 G. Skliczki nd J. Kiss Chpter 17 Wrist nd Hnd............................... 347 Zs. Süth nd J. Rupnik
X Contents Chpter 18 Hip.......................................... 381 Z. Bejek, L. Sólyom nd M. Szendrői Chpter 19 Knee......................................... 403 M. Szendrői, G. Skliczki nd L. Brth Chpter 20 Ankle nd Foot............................... 439 F. Mády, G. Holnpy nd M. Szendrői Suggested Reding........................... 471 Suject Index................................. 475
List of Contriutors Ljos Brth Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry Jenő Kiss Deprtment of Orthopedics St. John Hospitl Budpest 1125 Budpest, Diós árok 1 3 Hungry Zoltán Bejek Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry Sándor Kiss Deprtment of Orthopedics Semmelweis University, Budpest 1113 Budpest Krolin út 27 Hungry István Böröcz Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry Ktlin Köllő Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry Anikó Deli Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry József Lktos Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry Roert Esther Deprtment of Orthopedics University of North Crolin 100 Mson Frm Rod 3155 Bioinformtics Building CB# 7055 Chpel Hill, NC 27599 USA Gergely Holnpy Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry Ferenc Mády Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry János Rupnik Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry
XII List of Contriutors Frnklin Sim Myo Clinic 200 First Street SW Rochester, MN 55905 USA György Szőke Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry Gáor Skliczki Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry Tmás Tereessy Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry László Sólyom Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry Tior Vízkelety Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry Péter Somogyi Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry Doris E. Wenger Myo Clinic 200 First Street SW Rochester, MN 55905 USA Zsuzs Süth Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry Ákos Zhár Deprtment of Orthopedics Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry Miklós Szendrői Hed of Orthopedic Deprtment Semmelweis University Budpest 1113 Budpest, Krolin út 27 Hungry
Chpter 1 Common Bone Dysplsis nd Mlformtions Contents 1.1 Skeletl Dysplsis with Predominntly Epiphysel Involvement.................. 2 1.2 Skeletl Dysplsis with Predominntly Metphysel Involvement................. 4 1.3 Skeletl Dysplsis with Mjor Involvement of the Spine........................ 11 1.4 Mucopolyscchridoses................. 16 1.5 Skeletl Dysplsis due to Anrchic Development of Bone Constituents........... 18 1.6 Skeletl Dysplsis with Predominnt Involvement of Single Sites of Segments........ 25 1.7 Skeletl Dysplsis with Anormlities of Bone Density nd/or Modeling Defect....... 33
Chpter 1 Common Bone Dysplsis nd Mlformtions S. Kiss, T. Vízkelety, K. Köllő, T. Tereessy, G. Holnpy, G. Szőke 1.1 Skeletl Dysplsis with Predominntly Epiphysel Involvement 1.1.1 Multiple Epiphysel Dysplsi Multiple epiphysel dysplsi (MED) is chrcterized y the disturnce of enchondrl ossifiction involving numerous epiphyses. MED is usully trnsmitted in n utosoml dominnt mnner, lthough utosoml recessive trnsmission hs lso een reported. Different levels of deformities my e present in one ptient. Usully lower extremity joint pin with decresed rnge of motions nd limping re the min complints. Dominntly hips, knees, nd nkles re ffected. Irregulr, frgmented epiphyses nd flt rticulr surfces with norml metphyses nd mild shortening of the tuulr ones cn e oserved. Upper extremity involvement my differ from miniml to severe with significnt deformities (Figs. 1.1 1.8). Fig. 1.1 Norml or modertely short height with norml proportions Fig. 1.2 Severely ffected right hip with frgmenttion of the epiphysis nd flttening joint surfces Fig. 1.3 Normlly developed knee joint with frgmenttion nd moderte deformity of the ptell
Common Bone Dysplsis nd Mlformtions Chpter 1 3 Fig. 1.4 Fingers re eqully shortened Fig. 1.7 Bilterl irregulr distl humerl epiphyses with deformity of the trochle Fig. 1.5 Toes re vrily shortened Fig. 1.8 The short tuulr ones of the hnd re shortened without ny significnt deformity Fig. 1.6 Irregulr proximl humerl epiphysis with lrge, flt rticulr surfce
4 Chpter 1 Common Bone Dysplsis nd Mlformtions 1.2 Skeletl Dysplsis with Predominntly Metphysel Involvement 1.2.1 Achondroplsi Achondroplsi is disproportionte short-lim dwrfism, y fr the most common of the humn chondrodysplsis. It occurs in three of 100,000 live irths. Achondroplsi is inherited in n utosoml dominnt mnner. Over 80% of individuls with chondroplsi hve prents with norml stture nd hve chondroplsi s the result of de novo muttion of gene, loclized to the distl short rm of chromosome 4. In infncy, hypotoni is typicl, nd cquisition of developmentl motor milestones is often delyed. Intelligence nd life spn re usully norml. Compression of the spinl cord nd upper irwy ostruction increse the risk of deth in infncy. Men dult height in mles is 131 5.6 cm, nd in femles 124 5.9 cm (Figs. 1.9 1.16). Fig. 1.10 There is no difference etween them in the height of the trunk; however, the chest nd shoulders re nrrower in chondroplsi Fig. 1.11, The hed is disproportiontely lrge in reltion to height, the forehed is prominent, nd nsl ridge is rodened nd depressed Fig. 1.9 Two 8-yer-old oys. Norml ody proportion is on the left. Chrcteristiclly rhizomelic (proximl) shortening of the rms nd legs, which cuse the disproportionte short-lim dwrfism on the right
Common Bone Dysplsis nd Mlformtions Chpter 1 5 Fig. 1.12, Exggerted lumr lordosis, limittion of elow extension nd rottion, genu vrum, hyperextension of the knees nd most other joints is common Fig. 1.14, The interpediculte distnce decreses from upper to lower lumr spine (). Chrcteristic short pedicles re seen on the lterl view () Fig. 1.13, The fingers in chondroplsi re not s short s in mny other short-lim dwrfism
6 Chpter 1 Common Bone Dysplsis nd Mlformtions Fig. 1.15 Shortened diphysis nd rodened epi-metphyses of femur with typicl ovl rdiolucent res re seen t the ge of eight Fig. 1.16 Rhizomelic shortening of upper extremities. There is chrcteristic prominence of muscle ttchment of the humerus 1.2.2 Hypophosphtsi (Congenitl) The congenitl form of hypophosphtsi is rre error of metolism chrcterized y defective one nd teeth minerliztion. The irth prevlence is 1/100,000. The muttion in the ALPL gene results in reduced ctivity of tissue nonspecific lkline phosphtse. The severity of hypophosphtsi is highly vrile, rnging from intruterine deth due to the defective skeletl minerliztion to premture loss of teeth only (odontohypophosphtsi). Frctures nd pseudo-frctures re common. Spinl deformity such s scoliosis nd prominent scpul hve lso een descried. Depending on the ge of dignosis, clinicl forms re the following: The lethl perintl form with intruterine impired minerliztion; The infntile form with respirtory complictions ecuse of rchitic chest wll deformities; The childhood form with doliocephlic skull, enlrged joints nd dely in multion, short stture nd wddling git; The dult form includes primrily utosoml dominnt inheritnce with foot nd thigh pin, stress frctures of mettrsl ones, nd femorl pseudo-frctures (Figs. 1.17 1.19).
Common Bone Dysplsis nd Mlformtions Chpter 1 7 Fig. 1.17 Vrus knee deformity of lower lims in hypophosphtsi of femle ptient Fig. 1.19 Rdiogrphs of doliocephlic skull. Lterl view Fig. 1.18, Rdiogrphs of 12-yer-old oy. Enlrged knee joints, owed fiuls, nd impired minerliztion t epi-metphysel region of oth tiis (). Impired minerliztion of rdius nd uln, with owing ()
8 Chpter 1 Common Bone Dysplsis nd Mlformtions 1.2.3 Chondroectoderml Dysplsi (Ellis Vn Creveld s Syndrome) Ellis-vn Creveld s syndrome is chrcterized y short stture, disproportionte dwrfism, short lims, polydctyly, nd congenitl hert disese due to ventriculr septl defect. But vrile orl findings such s fusion of upper lip to the gingivl mrgin, multiple frenul, normlly shped nd microdontic teeth, or congenitl missing teeth, mlocclusion, neontl teeth, nd notching of the lower lveolr process lso ply n importnt role in the dignosis of this syndrome. Asence of clvicles, nrrow chest, hypoplstic mxill, urinry trct nomlies, ichthyoids, plntr kertoderm, nd nomlies of hir re ssocited with this disese. This syndrome is n utosoml recessive, minly generlized disorder of the mturtion of enchondrl ossifiction. The link of the Ellis-vn Creveld s syndrome gene to mrker HOX7 in region proximl to the FGFR3 gene is responsile for the chondroplsi phenotype (Figs. 1.20 1.23). Fig. 1.20, Archive photogrphs present fusion of upper lip to the gingivl mrgin (), nd short stture, disproportionte dwrfism, chrcteristic for Ellis-vn Creveld s syndrome ()
Common Bone Dysplsis nd Mlformtions Chpter 1 9 Fig. 1.21, Lterl view of the elow () nd oth tiis nd fiuls (). The tuulr ones re short nd thick Fig. 1.22, The hnds fter the resection of ilterl postxil polydctyly presenting dystrophic nils. Postxil polydctyly nd dystrophic nils (), nd shortening of the digits on rdiogrph of the hnds (). Note the prtil fusion of the metcrpl ses Fig. 1.23, Shortening of the digits of the toes nd feet () nd rdiogrph of the short tuulr ones ()
10 Chpter 1 Common Bone Dysplsis nd Mlformtions 1.2.4 Metphysel Dysplsi (McKusick Type) Metphysel dysplsi is chrcterized y typicl rdiogrphicl chnges in the metphyses of the short- nd long tuulr ones, with norml epiphyses. The disese frequently ssocites with mlsorption, neutropeni nd recurrent infections in younger children. Schmid-type is trnsmitted in utosoml dominnt mnner, nd presents lter thn other types of metphysel dysplsi. Upper extremity involvement is mild, evidenced y wrist swelling nd flexion contrctures of the elows. The decresed stnding height is due to greter involvement of lower extremities. Vrus deformity of the nkles nd knees is present with owing of tii nd femur, with chrcteristic cox vr. McKusick type lso clled crtilge-hir hypoplsi, is trnsmitted s n utosoml recessive trit. In Amish popultion the incidence is 1/1,000 live irths, ut in other popultions it is less frequent thn the Schmidt type. Disproportionte short stture is chrcteristic, with genu vrum nd vrus nkle deformity due to distl fiulr overgrowth. Short nd pudgy hnds nd feet re the typicl deformities. Chest-wll involvement with enlrgement of costochondrl junctions cuses rchitic rosry (Figs. 1.24 1.26). Fig. 1.24 Anterior view of 17- yer-old girl with McKusick type of metphysel dysplsi with typicl light-coloured nd sprse hir. Note lso the disproportionte short stture nd vrus deformity of the lower extremity c Fig. 1.25 c Dorsl () nd plmr () clinicl view of short nd puffy hnds of the sme ptient. Anteroposterior rdiogrph (c) of oth hnds. Note the metphysel shortening of the metcrpls nd phlnges
Common Bone Dysplsis nd Mlformtions Chpter 1 11 1.3 Skeletl Dysplsis with Mjor Involvement of the Spine 1.3.1 Spondyloepiphysel Dysplsi Congenit, Trd Fig. 1.26 Anteroposterior rdiogrph of the lower extremities: in hip with mild cox vr nd with vrus deformity of the knee of the sme ptient. Note the scrs in longitudinl trecule in metphysel region of the femur Congenitl spondyloepiphysel dysplsi is n inherited chondrodysplsi with short stture, which is ssocited with short trunk due to growth disorder of the spine nd epiphysis of the lims. Pltyspondyly, os odontoideum with or without tlntoxil instility nd epiphysel dysplsi of the femorl hed re lso common. This deformity occurs through muttion in the COL2A1 gene encoding type II procollgen. Spondyloepiphysel dysplsi trd is n X-linked recessive progressive osteochondrodysplsi tht is chrcterized y defective growth nd chmpgne ottle shped vertere. The disorder mnifests in childhood with disproportionte short stture, short neck nd trunk nd rod chest. Heterozygous crrier femles re generlly cliniclly nd rdiogrphiclly norml; the disese ffects mles only. It cn ssocite with progressive rthropthy (Figs. 1.27 1.36). Fig. 1.27, Chrcteristic view from lterl of n 8-yerold oy () nd n nterior view of 28-yer-old femle (). Both of them short sttured due to congenitl spondyloepiphysel dysplsi
12 Chpter 1 Common Bone Dysplsis nd Mlformtions c Fig. 1.28 c Spondyloepiphysel dysplsi congenit: Typicl chmpgne-ottle shped verterl odies () Progressive dorsolumr kyphosis with pltyspondyly nd deformed verters t oy ge of 5 (), nd 17 (c) c d Fig. 1.29 d Short smll tuulr ones: clinicl view of the hnd of girl () nd rdiogrph of the hnd () of the sme ptient. Brod feet (c) of 28-yer-old femle, nd rdiogrph of the feet of young ptient (d)
Common Bone Dysplsis nd Mlformtions Chpter 1 13 Fig. 1.30, Retrded ossifiction of the proximl femur on rdiogrph of young ptient (), which is usully ccompnied y cox vr in elderly period s seen on the rdiogrph of 28-yer-old femle () Fig. 1.31 Spondyloepiphysel dysplsi trd. Norml stture of 13-yer-old oy
14 Chpter 1 Common Bone Dysplsis nd Mlformtions Fig. 1.32, Moderte deformities of the thorcolumr spine () nd hip nd pelvis () of the sme ptient Fig. 1.33, Lte form of spondyloepiphysel dysplsi congenit: Short stture of 39-yer-old mle
Common Bone Dysplsis nd Mlformtions Chpter 1 15 Fig. 1.35 Lte form of spondyloepiphysel dysplsi congenit: Severe ilterl coxrthrosis Fig. 1.34, Pltyspondyly nd nrrow disc spces on nteroposterior () nd lterl () thorcolumr spine rdiogrphs. Chrcteristic chmpgne-ottle shped verters of the lower thorcic spine cn e oserved Fig. 1.36 Severe cervicl spondylosis cusing myelopthy
16 Chpter 1 Common Bone Dysplsis nd Mlformtions 1.4 Mucopolyscchridoses The mucopolyscchridosis (MPS) is rre lysosoml storge disese with utosoml recessive inheritnce. It is cused when hydrolse enzyme deficiency cretes n ccumultion of mucopolyscchrides. Dignosis is mde using urine nlysis for glycosminoglycn, tissue smples, nd leukocyte enzyme nlysis. These ptients re chrcterized y corsening of the fce, epiphysel deformtion with restricted motion of the joints (prticulrly in the elow), cornel clouding, defness, mentl deteriortion nd crdic disese. Most ptients ecome symptomtic in erly childhood nd the life spn is vrily shortened. At lest six different types of MPS hd een descried. The Hurler syndrome (MPS type I.) is the most common nd Morquio syndrome (MPS type IV.) is the most severe MPS (Figs. 1.37 1.43). Fig. 1.38 Hypoplsi of the odontoid process (dens xis) is the most prolemtic finding in Morquio syndrome since together with ligmentous lxity tlnto-xil instility my occur. Cervicl spine fusion is recommended in lmost every cse Fig. 1.37, In Hurler type (courtesy of Gy. Fekete, Semmelweis University, Budpest) of MPS the ptient develops short ody trunk nd mximum stture of less thn 4 ft. The vlgus knee deformity is not rre in this mucopolyscchridosis (). The distinct fcil fetures including flt fce, depressed nsl ridge, flred nostrils, widely spced, prominent eyes, thick lips with open mouth nd ulging forehed ecome more evident in the second yer ()
Common Bone Dysplsis nd Mlformtions Chpter 1 17 Fig. 1.40, The hnd is reltively smll ut wide, the fingers re shortened (). Widening of the proximl prt of the phlnges nd pointing of the proximl prt of the 2 5 metcrpl ones together with clw hnd cn e oserved on rdiogrph () in Hurler disese c Fig. 1.39 c Chrcteristic fetures for Hurler syndrome re the dorsl kyphosis (), widening the lterl portion of the ris nd ossifiction defect on the verterl odies () with the very typicl dorsolumr gius (c)
18 Chpter 1 Common Bone Dysplsis nd Mlformtions 1.5 Skeletl Dysplsis due to Anrchic Development of Bone Constituents 1.5.1 Dysplsi Epiphyselis Hemimelic Fig. 1.41 Toe xis deformity nd fltfeet cn e oserved due to generlized ligmentous lxity in Morquio disese Dysplsi epiphyselis hemimelic (DEH) is rre skeletl developmentl disorder ffecting the epiphyses in young children. The etiology of DEH is still unknown. The incidence is 1 in 1,000,000. Mles re ffected twice s frequently s femles. The ge of onset is usully etween 2 nd 14 yers. The presence of mss with the consistency of one, deformity, ching pins nd limited rnge of motion re the most common presenting symptoms. It occurs usully in the lower lim, with the distl femur, distl tii nd tlus eing most commonly ffected. Upper lim involvement is extremely rre. Chrcteristiclly the involvement is hemimelic, i.e. the medil or lterl epiphyselis side is involved. These lesions show on rdiogrphs symmetric epiphysel enlrgement with multiple ossifiction centers. Histologiclly the lesion is similr to osteochondrom, ut osteochondrom rises from the met or diphysis, wheres DEH rises from the epiphysis (Figs. 1.44 1.49). Fig. 1.42 Cox vlg, dysplsi of the femorl hed nd the cetulum re very frequent in MPS IV Fig. 1.44 Moderte, pinless, one-hrd swelling t the lterl side of the left nkle Fig. 1.43 Shortening, widening nd epiphysel deformity of the femur nd tii in MPS I
Common Bone Dysplsis nd Mlformtions Chpter 1 19 Fig. 1.45, Lterl () nd nteroposterior () rdiogrphs of the left nkle showing n irregulr clcified mss on the postero-medil side of the tlus Fig. 1.46 3D CT scn shows n exostosis on the lterl side of the tlus Fig. 1.48, DEH loclized on the lterl side of the tlus: MRI frontl plne () nd CT () slides Fig. 1.47 Anteroposterior rdiogrph of the tlus with DEH, protruding from the one. In other cses DEH could e destructive, enlrged ony mss
20 Chpter 1 Common Bone Dysplsis nd Mlformtions Fig. 1.49, Lterl rdiogrph of the knee joint with DEH () nd MRI slide in sgittl plne of the sme joint with protruding one mss from the distl femorl epiphysis to the poplitel foss () 1.5.2 Multiple Exostoses Hereditry multiple exostosis is n utosoml dominnt disorder (muttion in EXT1 or the EXT2 gene) mnifested y the presence of multiple osteochondroms, multiple projections of one, minly t the metphyses of long ones t the extremities. The risk of mlignnt trnsformtion of the crtilginous portion of the exostoses, is up to 2%. Most common deformities include short stture, lim length discrepncies, vlgus deformities of the knee nd nkle, owing of the rdius with ulnr devition of the wrist, nd suluxtion of the rdiocrpl joint, symmetry of the pectorl nd pelvic girdles. In rre cses ssocited nil deformity pper lso (Figs. 1.50 1.57). c Fig. 1.50 d Photogrph of 11-yer-old oy. Note the seriously deformed legs () due to the numerous osteochondroms. One of the lrgest tumor is developed from the inner surfce of the scpul s presented on photogrph (), 3D CT picture (c) nd rdiogrph (d) d
Common Bone Dysplsis nd Mlformtions Chpter 1 21 Fig. 1.51 Lrge tiil, fiulr, nd femorl osteochondroms, with deformity of the extremities c d Fig. 1.52 Deformed lower extremities nd chest due to multiple osteochondroms. The oys re cousins, 4 nd 6 yers, oth of them hve osteochondrom developing from the right scpul Fig. 1.53 d Osteochondrom round the knee joint cn led to mllignment of xis, s in this cse, where vlgus deformity of the knees developed (, ). Severe deformtion of forerms is seen (c) with ilterl elow disloction on rdiogrphs (d)