# Osteogenesis Imperfecta Type II: The Lethal Newborn Form Diagnosed in the Postnatal Period

## TL;DR

This paper presents a case of a severe form of bone disease in a newborn that was diagnosed after birth and resulted in early death due to breathing failure.

## Contribution

The paper contributes a clinical case report of OI type IIA diagnosed postnatally and highlights its lethal outcome.

## Key findings

- The newborn presented with immediate respiratory distress and was diagnosed with OI type IIA.
- Genetic analysis and counseling were performed to confirm the diagnosis.
- The infant died on day nine due to respiratory failure from pulmonary hypoplasia.

## Abstract

Osteogenesis imperfecta (OI) is a rare inherited skeletal disease, characterized by bone fragility and low bone density. There are several types of OI, varying in severity from benign to severe. We report a case of type II OI, which is a lethal form according to the Sillence classification. At birth, the newborn presented immediate respiratory distress. Postnatal examination and bone radiography confirmed the diagnosis of OI type IIA. The genetic analysis was done along with genetic counseling. Death occurred on day nine of life due to respiratory failure secondary to pulmonary hypoplasia.