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Osteopetrosis - intermediate type

MedGen UID:
609426
Concept ID:
C0432261
Disease or Syndrome
SNOMED CT: Osteopetrosis - intermediate type (254121000)

Definition

A rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described. [from ORPHANET]

Professional guidelines

PubMed

Del Fattore A, Peruzzi B, Rucci N, Recchia I, Cappariello A, Longo M, Fortunati D, Ballanti P, Iacobini M, Luciani M, Devito R, Pinto R, Caniglia M, Lanino E, Messina C, Cesaro S, Letizia C, Bianchini G, Fryssira H, Grabowski P, Shaw N, Bishop N, Hughes D, Kapur RP, Datta HK, Taranta A, Fornari R, Migliaccio S, Teti A
J Med Genet 2006 Apr;43(4):315-25. Epub 2005 Aug 23 doi: 10.1136/jmg.2005.036673. PMID: 16118345Free PMC Article

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