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liver biliary dysgenesis and polydactyly

Friday 12 January 2007

Synopsis

- liver fibrocystic disease (LFCD)

  • dilatation of the intrahepatic bile ducts
  • fibrosis

- polydactyly
- mental retardation
- chronic renal failure
convergent strabismus
- hepatic fibrosis

Differential diagnosis

- Bardet-Biedl syndrome (BBS)
- Meckel syndrome (MKS)

See also

- liver fibrocystic disease (LFCD)

  • dilatation of the intrahepatic bile ducts
  • fibrosis

- Bardet-Biedl syndrome (BBS)
- Meckel syndrome (MKS)
- Jeune asphyxiating thoracic dysplasia
- Fraser-Jequier-Chen syndrome

References

- Esmer C, Alvarez-Mendoza A, Lieberman E, Del Castillo V, Ridaura-Sanz C. Liver fibrocystic disease and polydactyly: proposal of a new syndrome. Am J Med Genet. 2001 Jun 1;101(1):12-6. PMID: 11343330