Steelov syndróm – prvý prípad vzácnej kostnej dysplázie na Slovensku: kazuistika

Steel syndrome – the first case of rare skeletal dysplasia in Slovakia: a case report

Steel syndrome is an ultra-rare autosomal recessive disease affecting primarily the skeletal system. It is characterized by short stature, bilateral hip and radial head dislocations, carpal coalitions, scoliosis and pes cavus. Other features of the disease are facial dysmorphism, long oval face, prominent forehead, hypertelorism, macrocephaly, low-lying ears, brachydactyly or hearing loss. Steel syndrome is caused by mutations in the Col27A1 gene encoding the pro-alpha chain of fibrillar collagen type XXVII. We report an extremely rare case of an 8-year-old girl with mild skeletal dysplasia, constitutively delayed growth, hypertelorism and facial dysmorphism. In the patient, we identified the presence of two unknown heterozygous variants in the Col27A1 gene by whole exome sequencing: c.1741C>T, p.(Gln581Lys) and c.2858C>T, p. (Pro953Leu). At our department, we diagnosed the second case of Steel syndrome in Europe and at the same time it is the first case of this rare disease in the Slavic population.

Keywords:

Col27A1 gene – skeletal dysplasia – Steel syndrome – whole exome sequencing

Autoři: Oravcová Lucia ¹; Skalická Katarína ¹; Pribilincová Zuzana ¹; Tichá Ubica ¹; Hamidová Olívia ¹; Ilčík Milan ²; Podracká Udmila ¹
Působiště autorů: Detská klinika LF UK a NÚDCH, Bratislava ¹; Rádiologické oddelenie LF UK a NÚDCH, Bratislava ²
Vyšlo v časopise: Clinical Osteology 2021; 26(1): 29-34
Kategorie: Kazuistiky

Souhrn

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.

Zdroje

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Štítky

Biochémia Detská gynekológia Detská rádiológia Detská reumatológia Endokrinológia Gynekológia a pôrodníctvo Interné lekárstvo Ortopédia Praktické lekárstvo pre dospelých Rádiodiagnostika Rehabilitácia Reumatológia Traumatológia Osteologie

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