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Pan Afr Med J. 2015 May 5;21:11. doi: 10.11604/pamj.2015.21.11.6834. eCollection 2015.

Perinatal lethal type II osteogenesis imperfecta: a case report.

Author information

1
Department of Neonatology, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.

Abstract

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.

KEYWORDS:

Osteogenesis imperfecta; newborn; prenatal diagnosis

PMID:
26401205
PMCID:
PMC4561136
DOI:
10.11604/pamj.2015.21.11.6834
[Indexed for MEDLINE]
Free PMC Article

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