Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing

MeSH terms

• Adult
• Bardet-Biedl Syndrome / diagnosis*
• Bardet-Biedl Syndrome / genetics*
• DNA Mutational Analysis
• Early Detection of Cancer
• Female
• Fingers / abnormalities*
• Genetic Association Studies* / methods
• Genetic Predisposition to Disease*
• High-Throughput Nucleotide Sequencing
• Humans
• Kidney / abnormalities*
• Kidney / diagnostic imaging*
• Phenotype
• Polydactyly / diagnosis*
• Pregnancy
• Toes / abnormalities*
• Ultrasonography, Prenatal