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Skolyoz cerrahisi geçiren Bardet-Biedl sendromlu bir hastada anestezi yönetimi

Syndromic obesity occurs with different genetic or chromosomal disorders. Obesity is accompanied by dysmorphic features, mental retardation and developmental abnormalities. Prader-Willi syndrome, Bardet-Biedl syndrome and Alström syndrome are the most commonly encountered obesity syndromes, in clinical practice. Prader-Willi syndrome is an obesity syndrome, characterized by hypotonia, hyperphagia, hypogonadism and short stature due to genomic imprinting defect. Bardet-Biedl syndrome is a genetically heterogeneous ciliopathy syndrome caused by autosomal recessive genes, characterized by retinal dystrophy, truncal obesity, postaxial polydactyly, learning difficulties, renal anomalies, and hypogonadotropic hypogonadism only in males, Alström syndrome is an autosomal recessive syndrome, characterized by progressive cone-rod dystrophy, obesity and sensorineural hearing loss accompanied by multi-organ involvement. If exogenous and monogenic obesity is excluded, not only hormonal evaluation but also additional dysmorphic features, ophthalmic, dental, cardiac, renal, and neurological systems should also be evaluated to approach syndromic obesity. Genetic diagnostic analysis should be utilized for confirming the diagnosis and providing genetic counseling to families. [ABSTRACT FROM AUTHOR]

Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder with cardinal findings like that obesity, rod-cone dystrophy, polydactily, renal anomalies and hypogonadism and assumes *ciliopathy* pathology today and also is one of the genetic obesity syndromes. We presented here two cases that one of them is 26 months old and the other is 16 years old. The first featured with laryngeal web and posterior urethral valve and the second with nephrotic range proteinuria. [ABSTRACT FROM AUTHOR]

Bardet-Biedl syndrome (BBS) is a genetic autosomal recessive disorder, characterized by abdominal obesity, mental retardation, polydactyly, hypogonadism, retinal pigmentary retinopathy, and renal constitutional abnormalities or functional impairment. In syndromic cases with obesity such as BBS, possibility of myocardial infarction and thromboembolic events at early ages should be considered. In this study, polymorphisms on cardiovascular disease susceptibility genes were investigated in two Bardet-Biedl cases. In both cases, polymorphisms were detected on Factor V, Factor XIII, methylenetetrahydrofolate reductase (MTHRF), Plasminogen activator inhibitor-1 (PAI-1) (4G/5G), Glycoprotein IIIa receptor (HPA-1), and Apoprotein-E3/3 genes. In conclusion, in syndromic cases, possibility of thromboembolic diseases and myocardial infarction at early ages should be kept in mind. Monitoring and prophylaxis may be life saving for these cases with genetic susceptibility especially during the conditions of dehydration, severe infection, and operation. [ABSTRACT FROM AUTHOR]

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