Clin Case Rep Int | Volume 4, Issue 1 | Case Report | Open Access

Osteogenesis Imperfecta Type II - Rare Lethal Disorder: A

Tarun Singh^1*, Deepak Gupta¹, Shankar Gupta¹ and Patil Tushar Liladhar²

¹Department of Pediatrics, Sanjay Gandhi Memorial Hospital, India ²Department of Pediatrics, Suman Diagnostics, India

^*Correspondance to: Tarun Singh 

Abstract

Osteogenesis Imperfecta (OI) is a rare group of disorders with variable spectrum of clinical presentations as well as genetic presentation. It is characterized by excessive fragility of bones with recurrent fractures and low bone mass. It is caused mainly due to mutations in genes encoding for collagen. There are total 13 types of OI according to pattern of inheritance. On the basis of phenotypic presentation, it has been clinically classified under 4 categories. We have reported a rare case of Osteogenesis imperfecta type II with autosomal recessive pattern of inheritance which is also rare. The baby was born at Sanjay Gandhi Memorial Hospital, Mangolpuri, Delhi, India. The detailed discussion is being presented in the case report. Diagnosis of OI type II was based on clinical features and findings of Infantogram. The treatment of OI includes involvement of multiple modalities like medical and surgical interventions. Management of OI requires extensive alertness especially in prompt diagnosis. Newer treatment modalities are now being tried and researched upon to reduce the associated morbidity and mortality.

Keywords:

Osteogenesis type II; Autosomal recessive inheritance; Rare and Lethal

Citation:

Singh T, Gupta D, Gupta S, Liladhar PT. Osteogenesis Imperfecta Type II - Rare Lethal Disorder: A Case Report. Clin Case Rep Int. 2020; 4: 1169.