Volume 9, Issue 4 (3-2018)
2018, 9(4): 108-112 |
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Bazkhane E, Jafarzadeh M, Jahani Z, Jafarzadeh F, Solati M. A Case Report of a Rare Genetic Disorder. North Khorasan University of Medical Sciences 2018; 9 (4) :108-112
URL: http://journal.nkums.ac.ir/article-1-1320-en.html
URL: http://journal.nkums.ac.ir/article-1-1320-en.html
1- MD, Maneh and Samalqan County Health and Treatment Center, University of North Khorasan Province, Bojnurd, Iran
2- MSc, Department of Epidemiology, Maneh and Samalqan County Health Center, North Khorasan University of Medical Sciences, Bojnurd, Iran , mahsajafarzadeh64@gmail.com
3- MSc, Department of Parasitology, North Khorasan University of Medical Sciences, Bojnurd, Iran
4- BSc, Department of Midwifery. Maneh and Samalqan County Health Center, University of North Khorasan Province, Bojnurd, Iran
2- MSc, Department of Epidemiology, Maneh and Samalqan County Health Center, North Khorasan University of Medical Sciences, Bojnurd, Iran , mahsajafarzadeh64@gmail.com
3- MSc, Department of Parasitology, North Khorasan University of Medical Sciences, Bojnurd, Iran
4- BSc, Department of Midwifery. Maneh and Samalqan County Health Center, University of North Khorasan Province, Bojnurd, Iran
Abstract: (4550 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.
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.
Type of Study: Review Article |
Subject:
Basic Sciences
Received: 2018/03/18 | Accepted: 2018/03/18 | Published: 2018/03/18
Received: 2018/03/18 | Accepted: 2018/03/18 | Published: 2018/03/18
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