Steelov syndróm – prvý prípad vzácnej kostnej dysplázie na Slovensku: kazuistika
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Oravcová Lucia 1; Skalická Katarína 1; Pribilincová Zuzana 1; Tichá Ubica 1; Hamidová Olívia 1; Ilčík Milan 2; Podracká Udmila 1
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Detská klinika LF UK a NÚDCH, Bratislava
1; Rádiologické oddelenie LF UK a NÚDCH, Bratislava
2
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Clinical Osteology 2021; 26(1): 29-34
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Steelov syndróm je mimoriadne zriedkavé autosómovo-recesívne ochorenie postihujúce primárne skeletálny systém. Charakterizované je nízkym vzrastom, bilaterálnymi dislokáciami bedier a hlavy rádia, fúziou karpálnych kostí, skoliózou a pes cavus. Ďalšími znakmi ochorenia sú faciálna dysmorfia, dlhá oválna tvár, prominujúce čelo, hypertelorizmus, makrocefália, nízko položené uši, brachydaktýlia či poruchy sluchu. Príčinou vzniku ochorenia sú mutácie v géne Col27A1 kódujúceho alfa 1 reťazec fibrilárneho kolagénu typu 27. V práci publikujeme extrémne vzácny prípad 8-ročného dievčaťa s miernou kostnou dyspláziou, konštitučne oneskoreným rastom, hypertelorizmom a faciálnou dysmorfiou. U pacientky sme celoexómovým sekvenovaním identifikovali prítomnosť 2 neznámych heterozygotných variantov v géne Col27A1: c.1741C>T, p.(Gln581Lys) a c.2858C>T, p.(Pro953Leu). Na našom pracovisku sme diagnostikovali druhý prípad Steelovho syndrómu v Európe a zároveň prvý prípad tohto raritného ochorenia v slovanskej populácii.
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