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M.Laskowskaetal.
11
Spondyloepiphysealdysplasiacongenita
AchilleEmperaire,anartistandafriendofPaulCézanne,wasborn
inProvencein1829.Emperaire’snamewassavedfromobliviononlyby
theportraitsCézannemadeofhim.Themostnotableisthefull-lengthportrait,
morethansixfeethigh,thathangsintheMuséed’OrsayinParis.
Inthepainting,the“dwarf-artist”isseatedinalargeupholsteredarmchairwith
afloweredslipcover,hiscrippledbodywrappedinablueflannelrobe,
hisoutsizedpensivefacewithfashionablemoustacheandgoatee,andhis
spindlylegsrestingonafootstool.Abovethechair,againsttheuniformlydark
backgroundofthecanvas,apaintedinscriptioninBodoni-typeletteringreads:
“AchilleEmperairePeintre”(oiloncanvas,1867-1868,Muséed’Orsay,Paris,
France)(Fig.3).Thedisproportionatenatureofhisdwarfismisapparent,along
withalargeforeheadandathick-setshorttrunkwithlongandthinextremities.
Thedifferentialdiagnosisforshort-trunkdisproportionatedwarfismincludes
metatropicdysplasia,Kniestdysplasia,Morquiosyndromeandspondylo-
epiphysealdysplasiacongenita.Alloftheseconditionsareassociated
withnormalintelligence[11].
Emperairehasacharacteristicflatfacewithwideseteyestypical
ofspondyloepiphysealdysplasia,inparticular,thecongenitalform.Thefaceis
normalinthemilderformanditisnotassociatedwithaseverelyshortstature.
Spondyloepiphysealdysplasiacongenitalissuggestedherebyhisshortneck,
pectuscarinatum,andhandsandfeetofnormalsizecomparingtothelengthsof
thelimbs(rhizomelicandmesomelicshortening).Theinheritanceofthisdisease
isbyautosomaldominanttransmission,butmostcasesaresporadicinnature
andarecausedbymutationsintheCOL2A1locusonchromosome12[1,11].
