CASE 83
By: Dr. Amna Kashgari MD,SSC-Rad
HISTORY: Neonate with dysmorphic features.
What are your findings?
What is your differential diagnosis?
What is your most likely diagnosis?
What are the major known clinical associations?
FINDINGS:
Plain radiograph for pelvis and lower limb demonstrates generalized under-mineralisation with multiple fractures. The long bones are short and broad with cortical thinning. Wavy accordion-like appearance of the femori noted.
DIFFERNITAL DIAGNOSIS:
· Osteogenesis imperfecta type II.
· Thanatophoric dysplasia.
· Achondrogenesis.
· Congenital hypophosphatasia.
DIAGNOSIS:
Osteogenesis imperfecta type II.
Major Clinical Associations:
· Blue sclera, dentinogenesis imperfecta and hearing impairment.
· Other features: ligamentous laxity of joints, short stature, and easy bruising.
PEARLS AND DISCUSSION:
Osteogenesis imperfecta type II is the second most common lethal dysplasia after
Thanatophoric dysplasia “It is one of must know dysplasia for the board exam.
Osteogenesis imperfects is a heterogeneous group of genetic disorder affecting type Collagen
The severity of the disease depends on the type.
| Type | Inheritance | Features |
|---|---|---|
| I | Autosomal dominant |
- Mild - Blule sclera - Normal height - Joint hypermobility - frequent fractures - Brittle teeth and hearing loss may present |
| II | Autosomal recessive |
- Lethal type - Blue sclera - Multipule congenial fracture lead to deformed, short bones - Soft skull |
| III | Autosomal recessive |
- Sever- Non- lethal - Sclera vary - Recurrent multiple fractures - Short bones with deformity - Spine deformity - Brittle teeth and hearing loss may present |
| IV | Autosomal Dominant |
- Moderate (Between I and III) - Normal sclera - Near normal height - Fracture before puberty |
FURTHER READING:
1. Lane F Donnelly. Fundamental of pediatric radiology. ISBN-13: 978-0721690612
2. Johan G Blickman, Bruce R Parker, Patrick D Barnes. Pediatric Radiology: The Requisites, 3e. ISBN-10: 0323031250
