We are Reporting Bardet-Biedl Syndrome (BBS) in a Term Infant Presenting with Intrauterine Growth Retardation, Acute Respiratory Distress, Polydactyly, Bilateral Hydronephrosis and Microcephaly

Authors: Bharti D*

DOI: 10.23880/pnboa-16000179

Volume 8, Issue 2

Abstract

Bardet-Biedl syndrome is an uncommon disorder in newborn infants. A near term, female infant presented with growth retardation, polydactyly, bilateral hydronephrosis and microcephaly. Genetic testing showed heterozygous mutations of BBS10 gene for autosomal recessive Bardet Biedl Syndrome. A pathogenic variant, c. 2119_2120del (p.Val 707) and a variant of uncertain significance, c.590>G(p.Tyr 197Cys) was identified in BBS10

Keywords: Bardet-Biedl Syndrome; Intrauterine Growth Retardation; Acute Respiratory Distress; Polydactyly; Bilateral Hydronephrosis and Microcephaly

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