Steel syndrome – the first case of rare skeletal dysplasia in Slovakia: a case report
Authors:
Oravcová Lucia 1; Skalická Katarína 1; Pribilincová Zuzana 1; Tichá Ubica 1; Hamidová Olívia 1; Ilčík Milan 2; Podracká Udmila 1
Authors place of work:
Detská klinika LF UK a NÚDCH, Bratislava
1; Rádiologické oddelenie LF UK a NÚDCH, Bratislava
2
Published in the journal:
Clinical Osteology 2021; 26(1): 29-34
Category:
Kazuistiky
Summary
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
Zdroje
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Štítky
Biochemie Dětská gynekologie Dětská radiologie Dětská revmatologie Endokrinologie Gynekologie a porodnictví Interní lékařství Ortopedie Praktické lékařství pro dospělé Radiodiagnostika Rehabilitační a fyzikální medicína Revmatologie Traumatologie OsteologieČlánek vyšel v časopise
Clinical Osteology
2021 Číslo 1
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