Robinow Syndrome: A Rare Diagnosis.
Shubhankar Mishra1, Sunil Kumar Agarwalla2, Swayanprava Pradhan3
1Junior Resident, Department of Paediatrics, MKCG Medical College , Berhampur, Odisha, India .
This case report details an eight-year-old female diagnosed with autosomal dominant Robinow syndrome, a rare genetic disorder causing distinctive facial features and skeletal abnormalities. Early diagnosis and management are crucial for improving patient outcomes.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Robinow syndrome is a rare genetic disorder characterized by mesomelic short stature, distinctive facial dysmorphism (fetal face), and abnormalities of the external genitalia.
- Also known as 'fetal face syndrome,' it presents with a spectrum of physical anomalies.
- Autosomal dominant inheritance is the most common pattern observed.
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