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Robinow syndrome
S K Singh1, S K Bhadada, R Singh
1Department of Pediatrics, Banaras Hindu University, Varanasi-221 005.
The Journal of the Association of Physicians of India
|March 29, 2001
Summary
Robinow syndrome is a rare congenital disorder affecting limbs and facial features. This case highlights its unusual presentation and associated anomalies.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Medicine
Background:
- Robinow syndrome is a rare autosomal dominant genetic disorder.
- It is characterized by a distinctive set of skeletal and facial abnormalities.
Observation:
- This report details a rare case of Robinow syndrome.
- The patient presented with mesomelic brachymelia, hemivertebrae, dysmorphic facies, and genital hypoplasia.
Findings:
- Key features included micropenis, clinodactyly, camptodactyly, hypoplastic nails, and moderate short stature.
- The case presentation is notable for its rarity and the presence of additional, less common features.
Implications:
- Documenting rare cases aids in understanding the phenotypic variability of Robinow syndrome.
- Further research can improve diagnostic criteria and management strategies for this congenital abnormality.