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Limb defects associated with BBS

Last reviewed 1 Jan 2018

Authoring team

almost all children affected by BBS show at least one of the following limb defects (1),(2):
- polydactyly (Occurs in 69% of cases)
- syndactyly (Occurs in 8% of cases)
- short/broad fingers or toes (Occurs in 46% of cases)
- other associated features include a proximally placed thumb or a significant sandal gap

Reference

(1) Bardet-Biedl Syndrome, Encyclopaedia of Genetic Disorders, 2002
( 2) Beales, P. L., et al. "New Criteria for Improved Diagnosis of Bardet-Biedl Syndrome: Results of a Population Survey." Journal of Medical Genetics 36 (1999): 437-446.

Polydactyly
Syndactyly
Sandal gap

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Limb defects associated with BBS

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