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Goldston syndrome

MIM.267010

Meckel-like syndrome, renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst, cerebrohepatorenal syndrome

 

Definition: Renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst.

Synopsis

See also

-  Dandy-Walker malformation (DWM)
-  cystic kidneys
-  hepatic fibrosis without bile duct proliferation

See also

-  Meckel syndrome
-  Bardet-Biedl syndrome (#15666242#)

References

-  Karmous-Benailly, H.; Martinovic, J.; Gubler, M.-C.; Sirot, Y.; Clech, L.; Ozilou, C.; Auge, J.; Brahimi, N.; Etchevers, H.; Detrait, E.; Esculpavit, C.; Audollent, S. et al. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am. J. Hum. Genet. 76: 493-504, 2005. PubMed: #15666242#

-  Hunter AG, Jimenez C, Tawagi FG. Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? Am J Med Genet. 1991 Nov 1;41(2):201-7. PMID: #1785635#



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