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:: Volume 9, Issue 4 (3-2018) ::
JNKUMS 2018, 9(4): 107-111 Back to browse issues page
A Case Report of a Rare Genetic Disorder
Ebrahim Bazkhane , Mahsa Jafarzadeh * , Zahra Jahani , Fatemeh Jafarzadeh , Masoumeh Solati
Abstract:   (400 Views)
Introduction: The Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder that involves multiple organs; the symptoms are central obesity, mental retardation, polydactyly, retinal dystrophy, retinitis pigmentosa, hypogenitalism, hypogonadism, and renal failure; however, the signs and symptoms of this condition vary among affected individuals, even among members of a family.
Case report: Here in the current paper, authors reported the cases of an 8-year-old male and a 7-year-old female from Mane & Samalqan in North Khorasan Province, Iran, with obvious signs of Bardet-Biedl syndrome, while no familial relationships between their parents.
Conclusions: Bardet-Biedl syndrome, a rare often forgotten or undiagnosed disorder, should be promptly diagnosed by pediatricians and timely referred to the ophthalmologist, endocrinologist, and nephrologist. Although this syndrome is mostly reported among the offspring of consanguineous marriage, the current reported cases were the children of non-familial marriages. Hence, genetic testing before getting married, particularly between relatives, is highly recommended.
Keywords: Bardet- Biedl Syndrome Mane and Samalqan Genetic Counselling
Full-Text [PDF 668 kb]   (154 Downloads)    
Type of Study: Review Article | Subject: Basic Sciences
Received: 2018/03/18 | Accepted: 2018/03/18 | Published: 2018/03/18
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Bazkhane E, Jafarzadeh M, Jahani Z, Jafarzadeh F, Solati M. A Case Report of a Rare Genetic Disorder. JNKUMS. 2018; 9 (4) :107-111
URL: http://journal.nkums.ac.ir/article-1-1320-en.html


Volume 9, Issue 4 (3-2018) Back to browse issues page
مجله دانشگاه علوم پزشکی خراسان شمالی Journal of North Khorasan University of Medical Sciences
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