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Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features.
J Pediatr Orthop. 2010 Apr-May;30(3):282-8. doi: 10.1097/BPO.0b013e3181d3e464.
J Pediatr Orthop. 2010.
PMID: 20357596
CONCLUSIONS: Steel syndrome is a distinct clinical entity characterized by short stature, bilateral hip and radial head dislocation, carpal coalition, scoliosis, cavus feet, and characteristic facial features with dismal results for attempts at reduction of the hips. LEVEL OF EVI …
CONCLUSIONS: Steel syndrome is a distinct clinical entity characterized by short stature, bilateral hip and radial head dislocation, carpal …
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT.
Gonzaga-Jauregui C, et al.
Eur J Hum Genet. 2015 Mar;23(3):342-6. doi: 10.1038/ejhg.2014.107. Epub 2014 Jul 2.
Eur J Hum Genet. 2015.
PMID: 24986830
Free PMC article.
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A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.
Pölsler L, Schatz UA, Simma B, Zschocke J, Rudnik-Schöneborn S.
Pölsler L, et al.
Am J Med Genet A. 2020 Apr;182(4):730-734. doi: 10.1002/ajmg.a.61478. Epub 2020 Jan 8.
Am J Med Genet A. 2020.
PMID: 31913554
Free PMC article.
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