naturaleza frágil, espíritu inquebrantable
BOE de 6 de septiembre de 2012
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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