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ISSN 2007-087X (Print)
Órgano Oficial de la Sociedad Mexicana de Ortopedia Pediátrica

2013, Number 2

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Rev Mex Ortop Ped 2013; 15 (2)

Osteogenesis imperfecta type II: Report of a case with survival greater than four months

Guaglione CA, Sánchez DMÁ, Martínez AJP

Language: Spanish
References: 20
Page: 111-117
PDF size: 264.92 Kb.


ABSTRACT

Background: An incidence of 1 to 20,000 to 1 in 60,000 infants with imperfect osteogenesis type II is reported in Mexico. Children with this condition present extreme bone fragility, frequently culminating with the death in the perinatal period or during lactancy. Long bones are highly fragmented, and cranial ossification is highly delayed; on palpation the skull seems as formed with countless small sheets of bone. Death usually occurs by respiratory failure. Objective: To present a patient with imperfect osteogenesis type II with four months of extrauterine survive to date. Case report: female who is four months of extrauterine life obtained eutocic, weight 2,950 grams and 47 cm height, Apgar score 8-9, presenting multiple fractures at birth, skull with severe ossification defects. Currently 50 cm height, weight 5.1 kg, sclerae without alterations in pigmentation, with cranial defects and open fontanelles, wormian bones, generalized bone fragility, with angular deformities in both thoracic and pelvic extremities, painful limbs on palpation and active mobility of the four extremities. Conclusions: The survival of patients with osteogenesis imperfect type II rarely exceeds the first month of extrauterine life. Adequate handling and care given to these patients may improve life quality and expectancy.


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