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Bent bone dysplasia

MedGen UID:
609415
•Concept ID:
C0432238
•
Disease or Syndrome
Synonyms: bent bone dysplasia; campomelic dysplasia and related disorders; Campomelic dysplasia and related disorders
 
Monarch Initiative: MONDO:0019698
Orphanet: ORPHA93439

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Bent bone dysplasia
Follow this link to review classifications for Bent bone dysplasia in Orphanet.

Professional guidelines

PubMed

Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.
Bondioni MP, Pazzaglia UE, Izzi C, Di Gaetano G, Laffranchi F, Baldi M, Prefumo F
Radiol Med 2017 Nov;122(11):880-891. Epub 2017 Jul 3 doi: 10.1007/s11547-017-0784-0. PMID: 28674909

Recent clinical studies

Etiology

New insights in congenital bowing of the femora.
Cormier-Daire V, Geneviève D, Munnich A, Le Merrer M
Clin Genet 2004 Sep;66(3):169-76. doi: 10.1111/j.0009-9163.2004.00307.x. PMID: 15324311
Benign form of congenital angulation of long bones associated with shortening of soft tissues.
Nakamura K, Haga N, Manabe N, Iizuka T
Clin Dysmorphol 1998 Jan;7(1):1-10. PMID: 9546823
The scapula as a window to the diagnosis of skeletal dysplasias.
Mortier GR, Rimoin DL, Lachman RS
Pediatr Radiol 1997 May;27(5):447-51. doi: 10.1007/s002470050166. PMID: 9133361

Diagnosis

Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
Barad M, Csukasi F, Bosakova M, Martin JH, Zhang W, Paige Taylor S, Lachman RS, Zieba J, Bamshad M, Nickerson D, Chong JX, Cohn DH, Krejci P, Krakow D, Duran I
EBioMedicine 2020 Dec;62:103075. Epub 2020 Nov 23 doi: 10.1016/j.ebiom.2020.103075. PMID: 33242826Free PMC Article
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Krakow D, Cohn DH, Wilcox WR, Noh GJ, Raffel LJ, Sarukhanov A, Ivanova MH, Danielpour M, Grange DK, Elliott AM, Bernstein JA, Rimoin DL, Merrill AE, Lachman RS
Am J Med Genet A 2016 Oct;170(10):2652-61. Epub 2016 May 30 doi: 10.1002/ajmg.a.37772. PMID: 27240702Free PMC Article
A new case of bent bone dysplasia--FGFR2 type and review of the literature.
Stichelbout M, Dieux-Coeslier A, Clouqueur E, Collet C, Petit F
Am J Med Genet A 2016 Mar;170(3):785-9. Epub 2015 Nov 17 doi: 10.1002/ajmg.a.37473. PMID: 26573129
Bent bone dysplasia (BBD)-FGFR2 type: the radiologic manifestations in early gestation.
Handa A, Okajima Y, Izumi N, Yamanaka M, Kurihara Y
Pediatr Radiol 2016 Feb;46(2):296-9. Epub 2015 Oct 7 doi: 10.1007/s00247-015-3465-y. PMID: 26446305
The scapula as a window to the diagnosis of skeletal dysplasias.
Mortier GR, Rimoin DL, Lachman RS
Pediatr Radiol 1997 May;27(5):447-51. doi: 10.1007/s002470050166. PMID: 9133361

Prognosis

Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.
Mikelonis D, Jorcyk CL, Tawara K, Oxford JT
Orphanet J Rare Dis 2014 Mar 12;9:34. doi: 10.1186/1750-1172-9-34. PMID: 24618404Free PMC Article

Clinical prediction guides

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Krakow D, Cohn DH, Wilcox WR, Noh GJ, Raffel LJ, Sarukhanov A, Ivanova MH, Danielpour M, Grange DK, Elliott AM, Bernstein JA, Rimoin DL, Merrill AE, Lachman RS
Am J Med Genet A 2016 Oct;170(10):2652-61. Epub 2016 May 30 doi: 10.1002/ajmg.a.37772. PMID: 27240702Free PMC Article

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