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Year : 2021  |  Volume : 1  |  Issue : 1  |  Page : 151-153

Craniosynostosis, osteopetrosis, and Arnold-Chiari malformation type 1 – Ophthalmic manifestations: A rare case report

1 Miriam Hyman Children's Eye Care Centre, MTC Campus, L V Prasad Eye Institute, Patia, Bhubaneswar, Odisha, India
2 Department of Ophthalmology, MGM Medical College, Kishanganj, Bihar, India
3 Department of General Medicine, L V Prasad Eye Institute, Bhubaneswar, Odisha, India

Correspondence Address:
Dr. Vivekanand Uttamrao Warkad
Miriam Hyman Children's Eye Care Centre, L V Prasad Eye Institute, MTC Campus, Patia, Bhubaneswar - 751 024, Odisha
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_1408_20

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We report an interesting rare case of a child with a constellation of craniosynostosis (CS), osteopetrosis (OP), and Arnold-Chiari malformation type 1 (ACM1), presenting with developmental delay and progressive vision loss since infancy with normal intellect. The ophthalmic examination revealed bilateral advanced visual loss, bilateral proptosis, optic atrophy, and large angle esotropia in primary gaze. A systemic examination revealed facial dysmorphism, abnormal shape of the head, malunion fracture of the right arm, and scoliosis. Neuroimaging revealed features suggestive of CS, OP, and ACM-1. Neurosurgical consultation was sought, and the ventriculoperitoneal shunt was advised.

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