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Bardet-Biedl syndrome: multiple fingers with multiple defects!
Jagadesh Madireddi1, Vasuveda Acharya1, Jandhyala Suryanarayana1
1Department of Internal Medicine, Kasturba Medical College, Manipal, Manipal, Karnataka, India.
BMJ Case Reports
|November 28, 2015
Summary
Bardet-Biedl syndrome (BBS), a rare ciliopathy, presents with diverse symptoms including vision loss and polydactyly. This case highlights unusual cardiovascular complications, emphasizing early diagnosis for better patient outcomes.
Area of Science:
- Genetics
- Rare Diseases
- Ciliopathies
Background:
- Bardet-Biedl syndrome (BBS) is a rare genetic disorder affecting multiple organ systems.
- Key features include rod-cone dystrophy, polydactyly, obesity, intellectual disability, hypogonadism, and renal issues.
Observation:
- A 45-year-old Indian male presented with dyspnea, blindness, obesity, cyanosis, clubbing, and polydactyly.
- Cardiac examination revealed a fixed split second heart sound and a systolic murmur.
- Diagnostic workup identified secondary polycythemia, atypical retinitis pigmentosa, and a partial atrioventricular defect.
Findings:
- The patient was diagnosed with Bardet-Biedl syndrome based on clinical and radiological evidence.
- This case underscores the syndrome's rarity and its peculiar cardiovascular manifestations.
- Polydactyly served as a critical clinical clue for identifying underlying anomalies.
Implications:
- Early recognition of BBS, particularly when polydactyly is present, is crucial for detecting associated anomalies.
- Awareness of BBS and its varied clinical spectrum is essential for timely diagnosis.
- A multidisciplinary approach is vital for improving patient mortality and morbidity.
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