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Osteopathia striata with cranial sclerosis
1Department of Radiology, Emory University School of Medicine, Atlanta, Georgia.
Pediatric Radiology
|January 1, 1994
Summary
Osteopathia striata with cranial sclerosis (OS-CS) is a rare bone dysplasia affecting females more often. This review details clinical and radiologic findings in a new patient, highlighting skeletal abnormalities and complications.
Area of Science:
- Genetics
- Radiology
- Pediatrics
Background:
- Osteopathia striata with cranial sclerosis (OS-CS) is a rare genetic bone dysplasia.
- It presents with distinctive facial and neurological abnormalities.
Observation:
- This case review follows a patient from birth to 20 years, believed to be the 35th reported case.
- OS-CS is more common in females and can be autosomal dominant or a sporadic mutation.
- Patients present with hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological deficits.
Findings:
- Distinctive skeletal abnormalities include skull base and calvarium sclerosis, linear striated densities in long bones and pelvis.
- Poor development of mastoid and sinus air cells is noted.
- Bone scans show increased bone turnover, supported by elevated pyridinoline excretion.
Implications:
- Major complications arise from the constriction of skull base foramina.
- While not life-threatening, OS-CS can lead to significant disability.
- Early diagnosis and management are crucial for mitigating complications.