Oyinloye O O
Department of Radiology, University of Ilorin Teaching Hospital, Ilorin, Nigeria.
West Afr J Med. 2008 Apr;27(2):114-6.
Osteogenesis imperfecta is an inherited disease where the basic pathology is of defective collagen. It is a rare disorder with a reported incidence of 1/25000-1/30000. Four variants are recognized clinically, of which type II is the most severe form. Clinically the hall marks of the disease are multiple fractures and osteopenia.
This case is being presented because of its rare incidence, and to highlight the radiological features distinguishing it from battered baby syndrome occurring from child abuse.
An eight day old Nigeria neonate, with clinico radiological features highly suggestive of type II osteogenesis imperfecta is presented.
Emphasis on the radiological features, especially those distinguishing it from battered baby syndrome which has a similar appearance are discussed.
成骨不全是一种遗传性疾病,其基本病理是胶原蛋白缺陷。它是一种罕见的疾病,报告发病率为1/25000 - 1/30000。临床上可识别出四种类型,其中II型是最严重的形式。临床上,该疾病的主要特征是多发性骨折和骨质减少。
本病例因其罕见发病率而被呈现,以突出其与虐待儿童所致的受虐婴儿综合征相区别的放射学特征。
一名8天大的尼日利亚新生儿,临床放射学特征高度提示II型成骨不全。
讨论了对放射学特征的重视,尤其是那些将其与外观相似的受虐婴儿综合征相区别的特征。