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Bent bone dysplasia group

MedGen UID:
630505
•Concept ID:
C0457928
•
Congenital Abnormality
SNOMED CT: Bent bone dysplasia group (278832007)

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

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

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