Osteogénesis Imperfecta (OI)

naturaleza frágil, espíritu inquebrantable

Asociación Nacional Huesos de Cristal

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Qué es la OI
Diagnostic and manifestations
Qué es una fractura
Prediction and incidence
Herencia y mosaicismo
Other organizations

Diagnostics and Manifestaciones

The diagnosis of a person with OI often largely by exploration yand based on one or more of the following events:

General manifestations

  • Fragility bone (bone break even without apparent cause)

  • Face with triangular shape (because the skull grows pushed by the brain, while the jaw is not what makes it grow).

  • Escleróticas (white of the eye) blue or gray.

  • Deafness progressive, usually in adulthood.

  • Dentinogenesis imperfecta (discoloration of teeth and fragility)

  • Tone of voice acute

  • Height low

  • Tendency to magullarse skin appearance and frequent "cardinals".

  • Weak Muscles

  • Joints lax.

  • Scoliosis

  • Skeletal deformities (upper extremities, lower chest and skull).

  • Constipation

  • Excessive sweating

  • Coefficient intellectual medium-high

  • Tone vital trend of optimism and euphoria

Usually it is not all these demonstrations at the same time in an affected us.

The diagnosis of OI Can be established via perinatal ultrasound, which allows detecting affection around the 16 th week of gestation. Can be reached at diagnosis by demonstrating the synthesis of alpha-chains for abnormal or sequencing WFD chorionic villi biopsy obtained by between 8 and 12 weeks of gestation.

None of these is easy to perform diagnostics, and some may have some risks to be assessed by medical specialists.



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