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Bruck syndrome.
Datta V, Sinha A, Saili A, Nangia S. Datta V, et al. Indian J Pediatr. 2005 May;72(5):441-2. doi: 10.1007/BF02731745. Indian J Pediatr. 2005. PMID: 15973030
The combination of arthrogryposis multiplex congenita and osteogenesis imperfecta is extremely rare. This combination is named Bruck syndrome. A 34 week male baby weighing 1.7 kg at birth was noted to have multiple flexion contractures and pterygia at elbows, wrists …
The combination of arthrogryposis multiplex congenita and osteogenesis imperfecta is extremely rare. This combination is named Bruck …
Bruck Syndrome: Beyond the Obvious.
Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R. Tran CT, et al. Fetal Diagn Ther. 2022;49(11-12):479-485. doi: 10.1159/000527594. Epub 2022 Dec 7. Fetal Diagn Ther. 2022. PMID: 36476632
INTRODUCTION: Bruck syndrome is a rare autosomal recessive disease characterized by multiple joint contractures, bone fragility, and fractures. Two genes have been associated with Bruck syndrome, FKBP10 and PLOD2, though they are phenotypically indisti …
INTRODUCTION: Bruck syndrome is a rare autosomal recessive disease characterized by multiple joint contractures, bone fragilit …
Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.
Otaify GA, Abdel-Hamid MS, Hassib NF, Elhossini RM, Abdel-Ghafar SF, Aglan MS. Otaify GA, et al. Am J Med Genet A. 2022 Jun;188(6):1815-1825. doi: 10.1002/ajmg.a.62718. Epub 2022 Mar 12. Am J Med Genet A. 2022. PMID: 35278031
Bruck Syndrome (BS) is a very rare disorder characterized by osteogenesis imperfecta (OI) associated with congenital contractures and is caused by mutations in FKBP10 or PLOD2 genes. ...In addition, our results expand the phenotypic spectrum, describe newly associat …
Bruck Syndrome (BS) is a very rare disorder characterized by osteogenesis imperfecta (OI) associated with congenital contractu …
Prenatal diagnosis of Bruck syndrome.
Berg C, Geipel A, Noack F, Smrcek J, Krapp M, Germer U, Bender G, Gembruch U. Berg C, et al. Prenat Diagn. 2005 Jul;25(7):535-8. doi: 10.1002/pd.801. Prenat Diagn. 2005. PMID: 16034828 Review.
Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. ...
Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogr …
Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.
Moravej H, Karamifar H, Karamizadeh Z, Amirhakimi G, Atashi S, Nasirabadi S. Moravej H, et al. Endokrynol Pol. 2015;66(2):170-4. doi: 10.5603/EP.2015.0024. Endokrynol Pol. 2015. PMID: 25931047 Free article. Review.
Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. ...Recently, mutations in FKBP10, localised to chromosome 17q21, have been identified in some patients of Bruck syndrome. Twenty-seven pat …
Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. ...Recently, …
Bruck syndrome: neonatal presentation and natural course in three patients.
Leroy JG, Nuytinck L, De Paepe A, De Rammelaere M, Gillerot Y, Verloes A, Loeys B, De Groote W. Leroy JG, et al. Pediatr Radiol. 1998 Oct;28(10):781-9. doi: 10.1007/s002470050465. Pediatr Radiol. 1998. PMID: 9799301
Three unrelated patients with congenital arthrogryposis and brittle bones, the main neonatal signs of Bruck syndrome, are presented. In infancy and early childhood recurrent fractures of ribs and long bones and persistent Wormian bones in the calvarium are reminisce …
Three unrelated patients with congenital arthrogryposis and brittle bones, the main neonatal signs of Bruck syndrome, are pres …
Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.
Yüksel Ülker A, Uludağ Alkaya D, Elkanova L, Şeker A, Akpınar E, Akarsu NA, Uyguner ZO, Tüysüz B. Yüksel Ülker A, et al. Calcif Tissue Int. 2021 Dec;109(6):633-644. doi: 10.1007/s00223-021-00879-4. Epub 2021 Jun 25. Calcif Tissue Int. 2021. PMID: 34173012
Osteogenesis imperfecta type XI (OI-XI) and Bruck syndrome type I (BS1) are two rare disorders caused by biallelic variants in the FKBP10, characterized by early-onset bone fractures and progressive skeletal deformities. ...
Osteogenesis imperfecta type XI (OI-XI) and Bruck syndrome type I (BS1) are two rare disorders caused by biallelic variants in …
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E. Leal GF, et al. J Bone Miner Res. 2018 Apr;33(4):753-760. doi: 10.1002/jbmr.3348. Epub 2018 Jan 4. J Bone Miner Res. 2018. PMID: 29178448 Free article.
Other features ranged from prenatal lethal severe angulation of the long bones as in kyphomelic dysplasia and mesomelic dysplasia Kozlowski-Reardon through classical Bruck syndrome to moderate OI with normal joints. Two siblings with a kyphomelic dysplasia-like phen …
Other features ranged from prenatal lethal severe angulation of the long bones as in kyphomelic dysplasia and mesomelic dysplasia Kozlowski- …
Arthrogryposis multiplex congenita in a child with congenital fractures: a case report.
Dayasiri K, Jayaweera H. Dayasiri K, et al. J Med Case Rep. 2022 Oct 19;16(1):376. doi: 10.1186/s13256-022-03587-1. J Med Case Rep. 2022. PMID: 36258204 Free PMC article.
BACKGROUND: Bruck syndrome is an exceedingly rare form of osteogenesis imperfecta, inherited autosomal recessively and presenting with the concurrence of bone fragility and congenital contractures of large joints. ...The phenotypic features in this child were highly …
BACKGROUND: Bruck syndrome is an exceedingly rare form of osteogenesis imperfecta, inherited autosomal recessively and present …
Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage.
Sandy JL, Perez D, Goh S, Forsey J, Rajagopalan S, Trivedi A, Munns CF. Sandy JL, et al. Am J Med Genet A. 2023 Jan;191(1):265-270. doi: 10.1002/ajmg.a.63007. Epub 2022 Oct 25. Am J Med Genet A. 2023. PMID: 36282022
Bruck syndrome is a rare collagen disorder with autosomal recessive inheritance caused by pathogenic variants in either FKBP10 or PLOD2 genes. ...This article describes an infant with a homozygous (partial) gene deletion of PLOD2 that includes the start codon and wo …
Bruck syndrome is a rare collagen disorder with autosomal recessive inheritance caused by pathogenic variants in either FKBP10 …
24 results