A neonate with multiple skeletal deformities and pathological fractures: a case of osteogenesis imperfecta

Srushti Chaudhari; Dhara Ajmera; Baraturam Bhaisara

doi:10.18203/2349-3291.ijcp20261916

Authors

Srushti Chaudhari Department of Paediatrics, HBTMC and Dr. R.N. Cooper Hospital, Mumbai, Maharashtra, India
Dhara Ajmera Department of Paediatrics, HBTMC and Dr. R.N. Cooper Hospital, Mumbai, Maharashtra, India
Baraturam Bhaisara Department of Paediatrics, HBTMC and Dr. R.N. Cooper Hospital, Mumbai, Maharashtra, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20261916

Keywords:

Limb deformities, Multiple fractures, Osteogenesis imperfecta, Pamidronate, WES

Abstract

Full term male child born to a multigravida mother presenting with brachycephaly, widely patent anterior fontanelle, low-set ears, a high-arched palate and profound limb deformities marked by shortening, bowing, bilateral genu varum and congenital talipes equinovarus and multiple pathological fractures. Whole exome sequence was suggestive of COL1A2 mutation confirming our diagnosis of Osteogenesis Imperfecta. Child was managed with a multidisciplinary approach involving paediatrician, orthopaedics opinion, endocrinologist for further evaluation and management. Child was administered with Inj. Pamidronate and discharged on calcium supplements along on direct breast feeding.

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