Year: 2026
Type: article
Study design: Case Report
Abstract: An Indian male in his mid-20s presented with breathlessness, pedal edema, and abdominal distension. Clinical examination revealed dysmorphic features, including a broad nasal bridge, a short neck, an upward slanting palpebral fissure, micrognathia with an underdeveloped chin, a flat fascial profile, and low set ear, along with minimal secondary sexual characteristics. Electrocardiogram showed incomplete right bundle branch block and P pulmonale, while echocardiography revealed severe pulmonary hypertension, myxomatous mitral valve with prolapse of the anterior leaflet, and severe tricuspid regurgitation. Further evaluation identified right renal agenesis and hypergonadotropic hypogonadism. Ophthalmological examination was normal. The constellation of features led to a clinical diagnosis of Bardet-Biedl Syndrome. This case emphasizes the importance of clinical suspicion and multidisciplinary evaluation in diagnosing syndromic disorders.
Source: Medicine India
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W7160720071