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Bruck syndrome

MedGen UID:
609420
•Concept ID:
C0432253
•
Disease or Syndrome
Synonyms: osteogenesis imperfecta with congenital joint contractures; Osteogenesis imperfecta-congenital joint contractures syndrome; osteogenesis imperfecta-congenital joint contractures syndrome
SNOMED CT: Bruck syndrome (254113006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017195
OMIM® Phenotypic series: PS259450
Orphanet: ORPHA2771

Definition

Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBruck syndrome
Follow this link to review classifications for Bruck syndrome in Orphanet.

Professional guidelines

PubMed

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
Mrosk J, Bhavani GS, Shah H, Hecht J, Krüger U, Shukla A, Kornak U, Girisha KM
Bone 2018 May;110:368-377. Epub 2018 Feb 27 doi: 10.1016/j.bone.2018.02.029. PMID: 29499418
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
Caparrós-Martin JA, Valencia M, Pulido V, Martínez-Glez V, Rueda-Arenas I, Amr K, Farra C, Lapunzina P, Ruiz-Perez VL, Temtamy S, Aglan M
Am J Med Genet A 2013 Jun;161A(6):1354-69. Epub 2013 Apr 23 doi: 10.1002/ajmg.a.35938. PMID: 23613367
Cyclic pamidronate treatment in Bruck syndrome: proposal of a new modality of treatment.
Andiran N, Alikasifoglu A, Alanay Y, Yordam N
Pediatr Int 2008 Dec;50(6):836-8. doi: 10.1111/j.1442-200X.2008.02752.x. PMID: 19067906

Recent clinical studies

Etiology

Bruck Syndrome: Beyond the Obvious.
Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
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
Calcif Tissue Int 2021 Dec;109(6):633-644. Epub 2021 Jun 25 doi: 10.1007/s00223-021-00879-4. PMID: 34173012
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
J Bone Miner Res 2018 Apr;33(4):753-760. Epub 2018 Jan 4 doi: 10.1002/jbmr.3348. PMID: 29178448
Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome.
Kaneto CM, Lima PS, Zanette DL, Oliveira TY, de Assis Pereira F, Lorenzi JC, Dos Santos JL, Prata KL, Neto JM, de Paula FJ, Silva WA Jr
BMC Med Genet 2016 May 4;17(1):38. doi: 10.1186/s12881-016-0301-7. PMID: 27146342Free PMC Article
Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study.
Otaify GA, Aglan MS, Ibrahim MM, Elnashar M, El Banna RA, Temtamy SA
Osteoporos Int 2016 Jan;27(1):81-92. Epub 2015 Jul 3 doi: 10.1007/s00198-015-3216-9. PMID: 26138583

Diagnosis

Bruck syndrome in pregnancy.
Manohar S, Jakes A, Watt-Coote I, Khalil A
BMJ Case Rep 2024 Sep 10;17(9) doi: 10.1136/bcr-2023-257696. PMID: 39256175Free PMC Article
Bruck Syndrome: Beyond the Obvious.
Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
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
Endokrynol Pol 2015;66(2):170-4. doi: 10.5603/EP.2015.0024. PMID: 25931047
Prenatal diagnosis of Bruck syndrome.
Berg C, Geipel A, Noack F, Smrcek J, Krapp M, Germer U, Bender G, Gembruch U
Prenat Diagn 2005 Jul;25(7):535-8. doi: 10.1002/pd.801. PMID: 16034828
Bruck syndrome.
Datta V, Sinha A, Saili A, Nangia S
Indian J Pediatr 2005 May;72(5):441-2. doi: 10.1007/BF02731745. PMID: 15973030

Therapy

Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study.
Otaify GA, Aglan MS, Ibrahim MM, Elnashar M, El Banna RA, Temtamy SA
Osteoporos Int 2016 Jan;27(1):81-92. Epub 2015 Jul 3 doi: 10.1007/s00198-015-3216-9. PMID: 26138583
The first case of Bruck syndrome associated with gastroschisis.
Afşarlar ÇE, Peltek-Kendirci HN, Erdoğan D, Özgüner İF, Çavuşoğlu YH, Karaman A, Çetinkaya S
Turk J Pediatr 2013 Nov-Dec;55(6):651-4. PMID: 24577988
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
Caparrós-Martin JA, Valencia M, Pulido V, Martínez-Glez V, Rueda-Arenas I, Amr K, Farra C, Lapunzina P, Ruiz-Perez VL, Temtamy S, Aglan M
Am J Med Genet A 2013 Jun;161A(6):1354-69. Epub 2013 Apr 23 doi: 10.1002/ajmg.a.35938. PMID: 23613367
Cyclic pamidronate treatment in Bruck syndrome: proposal of a new modality of treatment.
Andiran N, Alikasifoglu A, Alanay Y, Yordam N
Pediatr Int 2008 Dec;50(6):836-8. doi: 10.1111/j.1442-200X.2008.02752.x. PMID: 19067906

Prognosis

Bruck Syndrome: Beyond the Obvious.
Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
Arthrogryposis multiplex congenita in a child with congenital fractures: a case report.
Dayasiri K, Jayaweera H
J Med Case Rep 2022 Oct 19;16(1):376. doi: 10.1186/s13256-022-03587-1. PMID: 36258204Free PMC Article
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
Calcif Tissue Int 2021 Dec;109(6):633-644. Epub 2021 Jun 25 doi: 10.1007/s00223-021-00879-4. PMID: 34173012
Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome.
Kaneto CM, Lima PS, Zanette DL, Oliveira TY, de Assis Pereira F, Lorenzi JC, Dos Santos JL, Prata KL, Neto JM, de Paula FJ, Silva WA Jr
BMC Med Genet 2016 May 4;17(1):38. doi: 10.1186/s12881-016-0301-7. PMID: 27146342Free PMC Article
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
Pediatr Radiol 1998 Oct;28(10):781-9. doi: 10.1007/s002470050465. PMID: 9799301

Clinical prediction guides

Bruck Syndrome: Beyond the Obvious.
Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632
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
Calcif Tissue Int 2021 Dec;109(6):633-644. Epub 2021 Jun 25 doi: 10.1007/s00223-021-00879-4. PMID: 34173012
Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.
Lv F, Xu X, Song Y, Li L, Asan, Wang J, Yang H, Wang O, Jiang Y, Xia W, Xing X, Li M
Calcif Tissue Int 2018 Mar;102(3):296-309. Epub 2017 Nov 24 doi: 10.1007/s00223-017-0360-6. PMID: 29177700
Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome.
Kaneto CM, Lima PS, Zanette DL, Oliveira TY, de Assis Pereira F, Lorenzi JC, Dos Santos JL, Prata KL, Neto JM, de Paula FJ, Silva WA Jr
BMC Med Genet 2016 May 4;17(1):38. doi: 10.1186/s12881-016-0301-7. PMID: 27146342Free PMC Article
Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study.
Otaify GA, Aglan MS, Ibrahim MM, Elnashar M, El Banna RA, Temtamy SA
Osteoporos Int 2016 Jan;27(1):81-92. Epub 2015 Jul 3 doi: 10.1007/s00198-015-3216-9. PMID: 26138583

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