DOI: http://dx.doi.org/10.18203/2349-3933.ijam20200090

A rare case of polydactyly with multiple defects

Sanjeev Kumar, Pradeep Kumar Bansal, Rohit Ishran, Rajendra Kasana

Abstract


Bardet-Biedl Syndrome (BBS) is a very rare genetically heterogenous disorder. Here is a case of 27 yr. old obese male presented with acute gastroenteritis with shock in our department. He had polydactyly in both upper limb and left lower limb, blindness since childhood, with difficult in learning and delayed onset of milestones. Patient’s sibling (younger brother 20-year-old) also had same problems since childhood and one female baby died within few days of birth. He was having single testis. Patient was managed conservatively. The available literature on this syndrome was reviewed.


Keywords


Bardet-Biedl Syndrome, Blindness, Heterogenous disorder, Milestone, Obese, Polydactyly

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References


Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet. 2013 Jan;21(1):8-13.

Klink BU, Zent E, Juneja P, Kuhlee A, Raunser S, Wittinghofer A. A recombinant BBSome core complex and how it interacts with ciliary cargo. eLife. 2017;6: e27434.

Evgeny N, Suspitsina B, Evgeny N. Imyanitov; Bardet-Biedl Syndrome. Mol Syndromol. 2016 May; 7(2):62-71

Marion V, Schlicht D, Mockel A, Caillard S, Imhoff O, Stoetzel C, et al. Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption. Kidney Int. 2011 May;79(9):1013-25.

Kousi M, Katsanis N. Genetic Modifiers and Oligogenic Inheritance. Cold Spring Harb Perspect Med. 2015 Jun; 5(6):a017145.

Uhl GR, Drgon T, Johnson C, Li CY, Contoreggi C, Hess J, et al. Molecular genetics of addiction and related heritable phenotypes: genome wide association approaches identify “connectivity constellation” and drug target genes with pleiotropic effects. Annals New York Acad Sci. 2008 Oct;1141:318-81.

Daniels AB, Sandberg MA, Chen J, Weigel-DiFranco C, Hejtmancik JF, Berson EL. Genotype-phenotype correlations in Bardet-Biedl syndrome. Arch Ophthalmol. 2012 Jul 1;130(7):901-7.

Madireddi J, Acharya V, Suryanarayana J, Hande HM, Shetty R. Bardet-Biedl syndrome: multiple fingers with multiple defects!. BMJ Case Reports. 2015 Nov 26;2015:bcr2015211776.

Khan PA, Nishaat J, Noor S, Fatima N. Laurence Moon Bardet Biedl syndrome: a rare case report in a tertiary care teaching hospital, Hyderabad, Telangana, India. Inter J Med Pub Heal. 2017 Jan 1;7(1):68-71.