Abstract

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 34^th 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 45^th 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.

Keywords : Osteogenesis imperfecta; prenatal.

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