A 30-year-old patient, daughter of the previous patient, diagnosed in childhood of OI due to a displaced tibial fracture followed by clavicle fracture after minor trauma.
Later he presented three new fractures, the last one at 12 years, requiring one of them surgical treatment ( olecranon).
Among other backgrounds of interest there were multiple ankle sprains and stapedectomy of the right ear.
She had never been treated for her disease and was asymptomatic.
The patient wanted to know her reproductive options to have a child free of disease.
Physical examination revealed a height of 153 cm, blue sclera and normal teeth.
No deformities were observed at any level.
Laboratory tests were normal except for 25OHCC: 23 ng/ml, and the rest of the study (cervical spine radiography, echocardiography, and abdominal ultrasound).
The densitometry results showed normal bone mineral density: T-scores of -0.9 in the lumbar spine (L1-L4), 0.0 in the femoral neck and -0.1 in total densitometry.
Supplementation with vitamin D was recommended.
A genetic study was carried out to search for the mutation identified in her father, confirming that the daughter has the same deletion in heterozygosis in the COL1A1 gene presented by her father.
Genetic counseling was carried out to inform about the possible consequences for the affection of their offspring, the results of a genetic study and its advantages and risks, as well as to inform them of the possible alternatives derived from the analysis.
