Ayadi Imene Dahmane, Hamida Emira Ben, Rebeh Rania Ben, Chaouachi Sihem, Marrakchi Zahra
Department of Neonatology, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
Pan Afr Med J. 2015 May 5;21:11. doi: 10.11604/pamj.2015.21.11.6834. eCollection 2015.
We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Parents refused pregnancy termination; they felt that the diagnosis was late. At birth, the newborn presented immediate respiratory distress. Postnatal examination and bone radiography confirmed the diagnosis of OI type IIA. Death occurred on day 25 of life related to respiratory failure.
我们报告了一例新的II型成骨不全症（OI）病例，这是一种围产期致死型疾病。孕早期超声未发现异常。孕中期超声显示四肢弯曲、胸廓狭窄，伴有肋骨和长骨矿化不足及多处骨折。父母拒绝终止妊娠；他们觉得诊断为时已晚。出生时，新生儿立即出现呼吸窘迫。产后检查和骨骼X线摄影确诊为IIA型成骨不全症。患儿于出生后第25天因呼吸衰竭死亡。
