A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl
نویسندگان
چکیده
منابع مشابه
Nephrolithiasis with Bardet-Biedl syndrome in a three-year-old girl: A case report
Bardet-Biedl syndrome is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities. Renal disease is clinically heterogeneous, but is recognized as a cardinal feature and is a major cause of mortality in BBS. We here presented a three-year-old girl with renal stone and Bardet...
متن کاملBardet–Biedl syndrome in a 32-year-old Iranian female
This figure shows the hexadactyly of feet and severe inflammation of the lower limbs of a 32-year-old Iranian female patient with Bardet–Biedl syndrome (BBS) who was referred to us with uraemic symptoms and metabolic acidosis. She had suffered from insulin-resistant type 2 diabetes mellitus for 2 years and moderate hypertension for 6 months. Her parents had noticed progressive decline in her vi...
متن کاملA Case of Bardet-Biedl Syndrome
Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnorm...
متن کاملPolydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.
UNLABELLED The prevalence of obesity in children is still rising all over the world. The most common reason for significant weight gain is a high-calorie diet and decreased physical activity. However, apart from environmental factors, genetic predisposition plays a crucial role in the pathomechanism of obesity. We present the case of a boy with pathological obesity and Bardet-Biedl syndrome (BB...
متن کامل[A case report of Bardet-Biedl syndrome].
The Bardet-Biedl syndrome (BBS) is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome.
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ژورنال
عنوان ژورنال: Cureus
سال: 2019
ISSN: 2168-8184
DOI: 10.7759/cureus.5717