A 13-year-old Female with Bardet- Biedl Syndrome - A Case Report

Ahmed, Syed Nesar; Shahin, Abu; Chowdhury, Romal; Ahammad, Alamgir Mustak; Shazzad, Nahiduzzamane; Alam, Rafiqul; Chowdhury, MA Jalil

doi:10.3329/bjmed.v26i1.25651

Cited by 3 publications

(10 citation statements)

References 17 publications

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“…The decrease in IQ level correlates with the presence of visual handicaps. 4 This finding was similar to our case.…”

Section: Discussionsupporting

confidence: 92%

“…3 In 1999, modified diagnostic criteria were defined in a British study of 109 LMBBS patients. 4 Patients who had at least 4 primary characteristics, or 3 primary and 2 secondary criteria, were identified as having LMBBS. 4 Our patient had four primary features, suggesting the diagnosis of LMBBS.…”

Section: Discussionmentioning

confidence: 99%

“…Hypogenitalism is reportedly more frequent in BBS males than females. 4 In BBS females, genital abnormalities encompass a wide range, including hypoplastic fallopian tubes, uterus, ovaries, partial or complete vaginal atresia, absent vaginal orifice, or absent urethral orifice. 4 Renal failure is the major cause of morbidity and early mortality in BBS patients.…”

Section: Discussionmentioning

confidence: 99%

“…4 In BBS females, genital abnormalities encompass a wide range, including hypoplastic fallopian tubes, uterus, ovaries, partial or complete vaginal atresia, absent vaginal orifice, or absent urethral orifice. 4 Renal failure is the major cause of morbidity and early mortality in BBS patients. A wide range of renal abnormalities has been described (chronic renal failure, parenchymal cysts, calyceal clubbing, fetal lobulation, scarring, unilateral agenesis, dysplastic kidneys, renal calculi, and vesicoureteric reflux).…”

Section: Discussionmentioning

confidence: 99%

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Laurence-Moon-Bardet-Biedl Syndrome: A case report

Haque¹,

Shultana²,

Matin³

et al. 2019

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Laurence-Moon-Bardet-Beidl syndrome is a rare ciliopathic and pleiotropic human autosomal recessive genetic disorder.1 In 1886, Laurence and Moon explained a case of a 7-year-old female with rod-cone dystrophy, hypogenitalism, mental retardation, obesity, and polydactyly. In 1920, Bardet described a 4-year-old female patient presented with rod-cone dystrophy, obesity, polydactyly (11 toes), and mental retardation.1 Two years after Bardet’s report, Biedl highlighted the complete scenario of clinical signs which includes skull abnormalities, anal atresia, mental deficiency, and gastrointestinal conflicts.1 Since these discoveries, symptoms such as obesity, hypogonadism, retinal pigment defects, psychological hindrance, and polydactylismin in several conditions as combinations, frequently in children with normal parents (cousin marriages) has been termed as Laurence-Moon-Bardet-Biedl syndrome (LMBBS).1

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“…The decrease in IQ level correlates with the presence of visual handicaps. 4 This finding was similar to our case.…”

Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Laurence-Moon-Bardet-Biedl Syndrome: A case report

Haque¹,

Shultana²,

Matin³

et al. 2019

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“…2,3 In Bangladesh, the actual prevalence rate is unknown and so far eight cases have been reported. [4][5][6][7][8][9][10][11]…”

Section: Introductionmentioning

confidence: 99%

Bardet-Biedl syndrome

Haque

Alam

Begum

et al. 2016

Bangabandhu Sheikh Mujib Medical University Journal

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<p>The Bardet-Biedl syndrome is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological manifestations. Mutations in 16 genes have been identified as causative factors. We, here, have presented a 12 year old male patient exhibiting characteristic features of Bardet Biedl syndrome.</p><p> </p>

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Primary Hypertension as the Presenting Feature of Laurence-Moon-Bardet-Biedl Syndrome: A Report of Two Children

Thadchanamoorthy

Jayasekara

Dayasiri

2021

Cureus

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Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare ciliopathic genetic multisystem disorder. It has several primary and secondary clinical features, which include central obesity, retinitis pigmentosa, mental subnormalities, polydactyly, and renal dysfunction. The majority of children may not show all clinical features at birth, and clinical features can develop progressively over the years. The authors report two children who were followed up for obesity at the pediatric clinic in the local hospital and the ophthalmology clinic at the tertiary care center, respectively, without a diagnosis, and were referred for specialist pediatric evaluation of hypertension detected on their routine checkup and for further management. Both children were investigated and found to have satisfied criteria for LMBBS in association with primary hypertension. Both children were diagnosed late as LMBBS at 12 years and four years of their age although both of them had enough features to have a suspicion of this syndrome.

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A 13-year-old Female with Bardet- Biedl Syndrome - A Case Report

Cited by 3 publications

References 17 publications

Laurence-Moon-Bardet-Biedl Syndrome: A case report

Laurence-Moon-Bardet-Biedl Syndrome: A case report

Bardet-Biedl syndrome

Primary Hypertension as the Presenting Feature of Laurence-Moon-Bardet-Biedl Syndrome: A Report of Two Children

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