2011, Number 3
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Rev Cub Gen 2011; 5 (3)
Type I Imperfect Osteogenesis. A case presentation
Consuegra ME, Pérez EO, Cervantes BEH, Rivera HDC
Language: Spanish
References: 18
Page: 145-148
PDF size: 400.40 Kb.
ABSTRACT
Imperfect osteogenesis was described for the first time in
1840, Vrolik explained this way the origin of a hereditary
skeletal condition prone to fractures and several osseous
deformations. The case of a cross-bred 9 year-old female
patient is discussed, which was diagnosed as having this
disorder by applying the clinical method through the comparative
or pattern technique. An early diagnosis of this
entity is important due to the possibility of carrying out a
secondary prevention in the patients, as well as offering an
appropriate genetic advice to the family.
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