Acta Medica Bulgarica · Published 2026-06-01 · DOI 10.2478/amb-2026-0059
O. Mladenov, M. Blazheva, Alexander Gerchev, Darina Kachakova-Yordanova, Radka Kaneva, M. Dikova
Steel syndrome (MIM# 615155) is a rare autosomal recessive skeletal dysplasia caused by biallelic pathogenic variants in the COL27A1 gene. It is characterized by congenital bilateral hip dislocation, radial head dislocation, scoliosis, short stature, and distinctive craniofacial features. Most cases have been reported in the Puerto Rican population, with only a few genetically confirmed cases worldwide.
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Mladenov, O., Blazheva, M., Gerchev, A., et al. (2026). Early Development of the First Bulgarian Patient With Steel Syndrome. Acta Medica Bulgarica. https://doi.org/10.2478/amb-2026-0059