Early Development of the First Bulgarian Patient With Steel Syndrome
References
- Plumb DA, Ferrara L, Torbica T, et al. Collagen XXVII organises the pericellular matrix in the growth plate. PLoS One. 2011 ;6(12):e29422. doi: 10.1371/joumal.pone.0029422.
- Steel HH, Piston RW, Clancy M, et al. A syndrome of dislocated hips and radial heads, carpal coalition, and short stature in Puerto Rican children. J Bone Joint Surg Am. 1993;75(2):259-264.
- Flynn JM, Ramirez N, Betz RR, et al. Orthopaedic manifestations of Steel syndrome: a clinical, radiographic, and genetic reappraisal. J Pediatr Orthop. 2010;30(3):282-288.
- Gonzaga-Jauregui C, Gamble CN, Yuan B, et al. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015;23(3):342-346. doi:10.1038/ejhg.2014.117.
- Evie K, Malfait F, Symoens S, et al. First reported case of Steel syndrome in the European population: a novel homozygous mutation in COL27A1 and review of the literature. Eur J Med Genet. 2020;63(4):103842. doi: 10.1016/j. ejmg.2019.103842.
- Kotabagi S, Shah H, Shukla A, et al. Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. Clin Genet. 2017;92(4):461-462. doi:10.1111/cge.13004.
- Pölsler L, Schatz UA, Simma B, et al. A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye. Am J Med Genet A. 2020; 182(3):622-627. doi: 10.1002/ajmg.a.61456.
- Thakur S, Paliwal P, Saxena KK. Steel syndrome: a rare cause of multiple congenital joint dislocations. J Postgrad Med. 2023;69(2):99-101. doi:10.4103/jpgm.jpgm_432_22.
- Georgieva B, Atemin S, Todorova A, et al. Molecular-genetic diagnostics of Angelman syndrome - the Bulgarian experience. Acta Med Bulg. 2020;47(1):1-7. doi.org/10.2478/amb-2020-0002
- Posey JE. Genome sequencing in rare disorders. Orphanet J Rare Dis. 2019;14:153. doi:10.1186/s13023-019-1127-0.
- Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the ACMG and the AMP. Genet Med. 2015; 17(5):405-424. doi:10.1038/gim.2015.30.
- Tincheva R, Malinova Z, Zahariev D. Letal form of arthrogryposis in a newborn - Pena-Shokeir type 1 syndrome. Pediatriia (Sofiia). 2006;46(1):41-42.
- Sarkar AS, Rao K, Ajila V. Hereditary ectodermal dysplasia in two identical siblings. Acta Medica Bulgarica. 2024;51(Suppl 1): 1-4. doi.org/10.2478/AMB-2024-0023
- Radler C. The Ponseti method for the treatment of congenital club foot: review of the current literature and treatment recommendations. Int Orthop. 2013;37(9):1747-1753. doi:10.1007/s00264-013-2039-1.
- López-Carrero E, Martín-Gil J, de la Mano A, et al. Effectiveness of the Ponseti method in the treatment of congenital idiopathic clubfoot: systematic review. Int J Environ Res Public Health. 2023;20(4):3714. doi:10.3390/ijerph20043714.
Language: English
Page range: 49 - 54
Submitted on: Nov 12, 2025
Accepted on: Feb 25, 2026
Published on: Jun 16, 2026
Published by: Medical University - Sofia
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year
Keywords:
Related subjects:
© 2026 O. Mladenov, M. Blazheva, A. Gerchev, D. Kachakova-Yordanova, R. Kaneva, M. Dikova, published by Medical University - Sofia
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.