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Crawfurd syndrome

MIM.208540

Synopsis

- asplenia
- bilateral non-obstructive multicystic renal dysplasia (BNOMRD)
- pancreatic dysplasia (pancreas enlarged, nodular and cystic)
- biliary dysgenesis (portal fibrosis with bile duct proliferation in the liver)
- asplenia or splenic hypoplasia
- cardiac anomalies

References

- Crawfurd, M. d’A. Renal dysplasia and asplenia in two sibs. Clin. Genet. 14: 338-344, 1978. PubMed ID : #729198#