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

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...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2024-05, Vol.16 (5), p.e60945
Main Authors: Elhaddadi, Hasnae, Ayyad, Anass, Messaoudi, Sahar, Amrani, Rim
Format: Article
Language:English
Subjects:
Blood
Bones
Case reports
Classification
Collagen
Fractures
Genetic counseling
Genetics
Hemoglobin
Intensive care
Leukocytes
Medical diagnosis
Medical prognosis
Mutation
Neonatal care
Osteopathic Medicine
Pediatrics
Pharmacy
Proteins
Respiratory failure
Thorax
Ultrasonic imaging
X-rays
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Summary: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.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.60945