scholarly journals Bardet Biedl Syndrome: A Rare Case Report in a Tertiary Care Teaching Hospital, Dhaka, Bangladesh

2021 ◽  
Vol 3 (1) ◽  
pp. 11-14
Author(s):  
Sadia Saber ◽  
Mohammad Dabir Hossain ◽  
Mohammed Tarek Alam ◽  
Mohammad Monower Hossain ◽  
Suhail Gulzar
Keyword(s):  
Rare Case ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Tertiary Care ◽  
Consanguineous Marriage ◽  
Bardet Biedl Syndrome ◽  
Excessive Weight ◽  
Rare Case Report ◽  
Males And Females ◽  
Renal Abnormalities

Bardet Biedl Syndrome (BBS) is an infrequent ciliopathic autosomal recessive genetic disorder that produces many effects and affects various body systems. Consanguineous marriage is conventionally considered as the most frequent etiology. The primary characteristics of the disorder are gradual visual impairment caused by retinal abnormalities, excessive weight gain, learning disabilities, Postaxial Polydactyly, Hypogonadism in males, renal abnormalities (kidney malformations and/or malfunctions). It affects both males and females. There is currently no specific cure for BBS but children with BBS benefit greatly from therapies like physical, occupational, speech and vision services. We, here, have presented a young boy of 15 years with the features of Bardet Biedl Syndrome.

scholarly journals Bardet-Biedl Syndrome- Polydactyly with Multifarious Defects - A Rare Case Report

2020 ◽  
Vol 7 (11) ◽  
pp. 580-583
Author(s):  
Rejinraj P.K. ◽  
Sumesh Chacko ◽  
John Nobel Thomas ◽  
Sukanya K. ◽  
Punnose Thomas Puthuveettil
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Bardet Biedl Syndrome ◽  
Rare Case Report

scholarly journals Bardet-Biedl syndrome due to a pathogenic mutation on CEP290 and an unreported TTC8 variant

2018 ◽  
Author(s):  
Samantha Karlin
Keyword(s):  
Autosomal Recessive ◽  
Pathogenic Mutation ◽  
Incomplete Penetrance ◽  
Male Hypogonadism ◽  
Current Management ◽  
Bardet Biedl Syndrome ◽  
Excessive Weight ◽  
Mutation Database ◽  
Heterozygous Variant ◽  
Its Gene

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive or triallelic ciliopathy disorder characterized by obesity, male hypogonadism, renal impairment, polydactyly, and intellectual disability. We present a case report of an African-American male with excessive weight gain and prediabetes who was referred to Genetics at 2½ years of age. Physical exam findings included obesity, macrocephaly, bilateral macrotia, brachydactyly, and small genitalia. Gene sequencing identified two mutations highly suggestive of BBS: a heterozygous variant in the CEP290 gene (c.4393 C>T) and a heterozygous variant in the TTC8 gene (c.1021 C>T). Twenty-one genes have been associated with the 21 types of BBS to date, all demonstrating variable expressivity and incomplete penetrance. There is no cure for BBS, and current management focuses on preventing and treating symptoms. CEP290 mutations are associated with BBS type 14, and only 1% of affected individuals carry a mutation on this gene. TTC8 mutations are associated with BBS type 8, and its gene frequency is also 1% in individuals with BBS. The TTC8 variant found in our propositus (p.Arg341Trp) has not been previously reported in the Human Gene Mutation Database. In this variant, tryptophan replaces the normal arginine at position 341 of the TTC8 protein. To our knowledge, this is the first report linking this specific TTC8 variant with BBS. Keywords: Bardet-Biedl Syndrome, Ciliopathy disorder, Childhood obesity, Genetic obesity, CEP290, TTC8

Bardet-Biedl Syndrome (BBS12) with Chronic Kidney Disease-CKD G5: A Rare Case Report from India

2021 ◽  
pp. 1
Author(s):  
Ravi Tatapudi ◽  
Satyanarayana Rentala ◽  
Ramya Varada ◽  
Aruna Komarraju ◽  
Anusha Pusapati
Keyword(s):  
Chronic Kidney Disease ◽  
Case Report ◽  
Kidney Disease ◽  
Rare Case ◽  
Bardet Biedl Syndrome ◽  
Rare Case Report

Bardet-Bidel Syndrome: A Case Report

2013 ◽  
Vol 12 (3) ◽  
pp. 67-69
Author(s):  
Kamal Hossain ◽  
Md Badruddoza
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Retinal Dystrophy ◽  
Learning Difficulties ◽  
Clinical Findings ◽  
Bardet Biedl Syndrome ◽  
Medical College ◽  
Characteristic Features ◽  
Human Genetic Disorder ◽  
And Function

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathic human genetic disorder characterized by retinal dystrophy, truncal obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical management of BBS. The diagnosis is based on clinical findings and can be confirmed by sequencing of known disease-causing genes in 80% of patients. BBS genes encode proteins that localize to the cilia and basal body and are involved in cilia biogenesis and function. Mutations lead to defective cilia accounting in part for the pleiotropic effects observed in BBS. We have presented a 11 years old female patient exhibiting characteristic features of Bardet Biedl syndrome (BBS) and then the literature is reviewed. Chattagram Maa-O-Shishu Hospital Medical College Journal Volume 12, Issue 3, September 2013: 67-69

scholarly journals XERODERMA PIGMENTOSA WITH MULTIPLE CUTANEOUS MALIGNANCIES– A RARE CASE REPORT AND REVIEW OF LITERATURE

2013 ◽  
Vol 03 (01) ◽  
pp. 76-78
Author(s):  
Rohan Shetty ◽  
Girish B. S. ◽  
Rajesh Ballal ◽  
Harish S. Permi ◽  
Pramodh Makannavar ◽  
...  
Keyword(s):  
Rare Case ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Skin Aging ◽  
Malignant Neoplasms ◽  
Review Of Literature ◽  
Rare Case Report ◽  
The Face ◽  
Xeroderma Pigmentosa ◽  
Increase In Risk

AbstractXeroderma pigmentosa is a rare autosomal recessive disorder, characterized by photosensitivity, pigmentary changes, premature skin aging, and marked increase in risk of developing malignant neoplasms of the skin and eyes. Here we present a 13 year old girl with xeroderma pigmentosa who developed multiple cutaneous malignancies in the face and upper limb.

scholarly journals Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Tieneka M. Baker ◽  
Erica L. Sturm ◽  
Clesson E. Turner ◽  
Scott M. Petersen
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Bardet Biedl Syndrome ◽  
Variable Expression ◽  
Snp Microarray ◽  
Significant Family History ◽  
First Case ◽  
Novel Approach ◽  
Human Genetic Disorder ◽  
Echogenic Kidneys

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathic human genetic disorder with variable expression that is difficult to diagnose in pregnancy without known risk factors. Homozygosity testing has been shown to be a useful tool in identifying BBS mutations and candidate genes in affected individuals. We present the first case of prenatal diagnosis of BBS in consecutive pregnancies aided by homozygosity testing via SNP microarray analysis. This case demonstrates a novel approach to the evaluation of recurrent echogenic kidneys in consanguineous couple with no significant family history.

scholarly journals An observation of autosomal recessive hyper-IgE syndrome: a rare case report

2017 ◽  
Vol 104 (6) ◽  
pp. 676-679
Author(s):  
Tasleem Arif ◽  
Mohammad Adil ◽  
Syed Suhail Amin ◽  
Konchok Dorjay
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Hyper Ige Syndrome ◽  
Rare Case Report

Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis

2021 ◽  
Vol 14 (1) ◽  
pp. e236325
Author(s):  
Parminder Kaur ◽  
Chakshu Chaudhry ◽  
Harsha Neelam ◽  
Inusha Panigrahi
Keyword(s):  
Cognitive Impairment ◽  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Cone Dystrophy ◽  
Bardet Biedl Syndrome ◽  
Homozygous Variant ◽  
Postaxial Polydactyly ◽  
Multiple Genes ◽  
Renal Abnormalities

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism, renal abnormalities, and rarely, laryngeal webs or bifid epiglottis. Most patients present with obesity. Multiple genes are involved in causation of BBS and there is also evidence of triallelic inheritance. We herein report an Asian boy who had weak cry and stridor since birth, and on evaluation was found to have both laryngeal web and bifid epiglottis. Mutation analysis revealed a homozygous variant in BBS10 gene.

scholarly journals A rare case report of unusual presentation of Edward’s syndrome (trisomy 18)

2018 ◽  
Vol 5 (4) ◽  
pp. 1685
Author(s):  
Meenakshi S. Kushwah ◽  
Ajay Gaur
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Rare Case ◽  
Genetic Disorder ◽  
Failure To Thrive ◽  
First Year ◽  
Extra Copy ◽  
Edwards Syndrome ◽  
Rare Case Report ◽  
First Year Of Life

Edwards syndrome, a rare genetic disorder is characterized by the extra copy of chromosome 18. About 50% babies with this syndrome do not survive one week of age and approx. 95% do not survive past the first year of life. The syndrome is usually characterized by dysmorphic facies, microcephaly, flexion finger deformity and rocker- bottom feet. There is involvement of cardiacvascular and renal system with intellectual disability. Authors report a case of Edwards syndrome presenting with failure to thrive and developmental delay in the absence of usual clinical features of Edwards syndrome.

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