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Nascer e Crescer

versão impressa ISSN 0872-0754

Resumo

SILVA, Vinhas da et al. Prenatal presentation of osteogenesis imperfecta. Nascer e Crescer [online]. 2012, vol.21, n.4, pp.234-236. ISSN 0872-0754.

Introduction: Osteogenesis imperfecta(OI) is a rare genetic disease, caused by generalized defect in collagen type 1. Clinical forms of the disease vary from mild (OI type I) or moderate (OI type IV-VII) to severe features (OI type II and III). Case Report: We report a case of a male patient, born after an inadequate pregnancy surveillance, with prenatal presentation of OI (ultrasound performed at 34th gestational week revealed shortening of lower limbs and bone demineralization). Physical examination findings were frog-leg posture, macrocephaly, large anterior fontanel, white sclera, short  limbs,  tenderness and crepitation of limbs. Newborn’s X-rays showed numerous fractures. Although treatment with pamidronate was started, new fractures were detected. General conditions progressively aggravated and he died at 45th day of life. Discussion: The reported case seems to be a severe form of type III or type II OI, with autosomal dominant transmission due to a de novo mutation or autosomal recessive transmission, according to current classification, with prenatal presentation and a fatal outcome.

Palavras-chave : Osteogenesis imperfecta; prenatal.

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