Perinatal lethal type II osteogenesis imperfecta: a case report

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. Pare...

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Veröffentlicht in:	The Pan African medical journal 2015-05, Vol.21 (11), p.11-11
Hauptverfasser:	Ayadi, Imene Dahmane, Hamida, Emira Ben, Rebeh, Rania Ben, Chaouachi, Sihem, Marrakchi, Zahra
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Case Report Fatal Outcome Female Humans Infant, Newborn newborn osteogenesis imperfecta Osteogenesis Imperfecta - diagnosis Osteogenesis Imperfecta - physiopathology Pregnancy prenatal diagnosis Respiratory Insufficiency - etiology Ultrasonography, Prenatal - methods
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Zusammenfassung:	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.
ISSN:	1937-8688 1937-8688
DOI:	10.11604/pamj.2015.21.11.6834