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Perinatal lethal type II osteogenesis imperfecta: a case report.

Imene Dahmane Ayadi¹, Emira Ben Hamida¹, Rania Ben Rebeh¹

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

The Pan African Medical Journal

|September 25, 2015

Summary

This case report details osteogenesis imperfecta (OI) type II, a lethal condition. Despite normal early ultrasounds, later scans revealed severe skeletal abnormalities, leading to respiratory failure and death in a newborn.

Keywords:

Osteogenesis imperfecta newborn prenatal diagnosis

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Area of Science:

Perinatology
Medical Genetics
Skeletal Dysplasias

Background:

Osteogenesis imperfecta (OI) type II is a severe, lethal perinatal form of brittle bone disease.
Early prenatal diagnosis is crucial for management and genetic counseling.
This report presents a unique case of OI type II with specific ultrasound findings.

Observation:

First-trimester ultrasound revealed no abnormalities.
Second-trimester ultrasound detected significant fetal anomalies, including incurved limbs, narrow chest, hypomineralization, and multiple fractures.
The parents opted against pregnancy termination due to perceived late diagnosis.

Findings:

Postnatal examination and radiography confirmed OI type IIA.
The neonate experienced immediate respiratory distress.
Death occurred on day 25 due to respiratory failure.

Implications:

Highlights the importance of detailed second-trimester anomaly scans for detecting severe skeletal dysplasias.
Underscores the challenges in late prenatal diagnosis of lethal OI forms.
Emphasizes the critical role of genetic counseling and timely diagnosis in managing OI cases.