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Related Experiment Video

Updated: Jun 28, 2026

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

Polydactyly and hypertension.

Daghan Isik¹, Omer Bulut, Mahmut Sunay

¹Plastic and Reconstructive Surgery Clinic, Gaziantep Avukat Cengiz Gökcek State Hospital, Gaziantep, Turkey. daghanmd@yahoo.co.uk

Annals of Plastic Surgery

|October 25, 2008

Summary

This summary is machine-generated.

This case report details Bardet-Biedl syndrome, a rare genetic disorder characterized by polydactyly and hypertension. Early diagnosis and management are crucial due to the high risk of renal insufficiency in affected individuals.

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Last Updated: Jun 28, 2026

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

Area of Science:

Genetics and rare diseases
Clinical case studies
Pediatric medicine

Background:

Bardet-Biedl syndrome (BBS) is an autosomal recessive genetic disorder.
Characterized by a spectrum of congenital anomalies including obesity, polydactyly, hypogenitalism, and developmental delay.
Historically known as Laurence-Moon-Bardet-Biedl syndrome, now commonly referred to as Bardet-Biedl syndrome.

Observation:

Presentation of a case diagnosed with Bardet-Biedl syndrome.
Key clinical features observed include polydactyly and hypertension.
The patient's presentation highlights the complex and variable phenotype of BBS.

Findings:

Bardet-Biedl syndrome encompasses renal dystrophy, dystrophic extremities, obesity, hypogenitalism, renal disease, and mental retardation.
Polydactyly is a frequently observed extremity malformation in BBS patients.
Renal insufficiency is a major cause of morbidity and mortality, often leading to premature death.

Implications:

Highlights the importance of recognizing Bardet-Biedl syndrome in patients presenting with polydactyly and hypertension.
Emphasizes the critical role of early diagnosis and comprehensive management, particularly focusing on renal function.
Underscores the need for further research into the genetic basis and therapeutic strategies for Bardet-Biedl syndrome to improve patient outcomes.