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Robinow syndrome.
1Department of Orthopaedics Ibri Regional Referral Hospital, Ibri, Sultanate of Oman.
Indian Journal of Orthopaedics
|September 16, 2009
Summary
Robinow syndrome, a rare genetic disorder, causes mesomelic dwarfism primarily affecting limbs and spine. This report details two cases highlighting key skeletal and facial features for improved diagnosis.
Area of Science:
- Genetics
- Pediatrics
- Orthopedics
Background:
- Robinow syndrome is a rare autosomal recessive disorder characterized by mesomelic dwarfism.
- Skeletal deformities typically involve the forearms, hands, and dorsal spine, sparing the lower extremities.
- Distinctive fetal facies are often present in early childhood.
Purpose of the Study:
- To report two cases of Robinow syndrome.
- To highlight associated vertebral segmentation defects and rib fusion.
- To emphasize characteristic brachymelia and facial features for diagnostic clarity.
Main Methods:
- Clinical case reporting.
- Review of patient medical records.
- Physical examination and skeletal imaging (implied).
Main Results:
- Two cases of Robinow syndrome were identified.
- Both cases exhibited severe brachymelia (shortening of limbs).
- Associated findings included vertebral segmentation defects, rib fusion, and characteristic facial features.
Conclusions:
- Robinow syndrome diagnosis is supported by characteristic skeletal and facial findings.
- Vertebral and rib anomalies can be associated features.
- Early recognition aids in management and genetic counseling.
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