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2016, Number 6

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Rev Ciencias Médicas 2016; 20 (6)

Pregnant with osteogenesis imperfect type IV, one case

García OA, Rives GY, Álvarez BD
Full text How to cite this article

Language: Spanish
References: 13
Page: 760-764
PDF size: 175.52 Kb.


Key words:

imperfect osteogenesis, genetics, pregnant women.

ABSTRACT

Introduction: the imperfect osteogenesis or Bones of Glass genetic illness, of transmission dominant autosomal; in specific the type IV, the patients are born with fractures and bends of the long bones of the inferior members, they show imperfect dentinogenesis, gray or white sclerotics and there is not deafness and it usually presents kyphoscoliosis and laxity ligaments.
Presentation of case: case of pregnant 24 years of age, white, is reported the symptoms mainly they are observed in muscle-skeletal system, vision, neurological. Primitive elective Caesarean operation, baby healthy, good apgar punctuation, not maternal complications neither neonatal, trans-operative and surgical puerperium: immediate, mediate and late without complications.
Conclusions: the purpose of writing article, to report case of a pregnant one with illness of genetic wide heterogeneity that determines variability phenotype that allows to face a prenatal good attention starting from showing the clinical manifestations of OI type IV observed in the pregnant one.


REFERENCES

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  2. Liu HY, Huang J, Wu D, Li T, Guo LJ, Guo QN, Wang HD, Wang RL, Wang Y. Collagen type I alpha 1 mutation causes Osteogenesis Imperfectafrom mild to perinatal death in a chinese family.Chin Med J (Engl) [Internet].2016 Jan 5th[cited 2016 Jan 18]; 129(1): 88-91. doi: 10.4103/0366-6999.172600. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26712438

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Rev Ciencias Médicas. 2016;20