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Engelmann's disease with optic atrophy | JoVE Visualize

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Engelmann's disease with optic atrophy

J P Soni¹, B D Gupta, M Soni

¹In Front of Railway Medical Colony, Jodhpur. jpsoni@datainfosis.net

Indian Journal of Pediatrics|November 8, 2002

View abstract on PubMed

Summary

Engelman-Camurati disease is a rare diaphyseal dysplasia. This condition involves thickening of the bone cortex in the shaft of tubular bones, sparing other bone areas.

Area of Science:

Orthopedics
Genetics
Rare Diseases

Background:

Engelman-Camurati disease is a rare genetic disorder.
It falls under the category of diaphyseal dysplasias, affecting bone development.

Observation:

Characterized by increased endosteal and periosteal thickness of the cortex.
Specifically affects the shaft of tubular bones.

Findings:

The condition spares the metaphysis and epiphysis of long bones.
Bones of the hand, feet, ribs, scapulae, and pubis are not affected.

Implications:

Understanding Engelman-Camurati disease aids in differential diagnosis of bone abnormalities.
Further research can elucidate the specific genetic pathways involved in this rare dysplasia.

Other Earth Sciences Not Elsewhere Classified

Engelmann's Disease With Optic Atrophy