Home > D. Systemic pathology > Genetic and developmental anomalies > Goldston syndrome

Goldston syndrome

MIM.267010

Friday 18 March 2005

Definition: Association of Dandy-Walker malformation with bilateral non-obstructive renal dysplasia (BNORD).

Synopsis

- Dandy-Walker malformation (DWM) (Dandy-Walker cyst)

- bilateral non-obstructive multicystic renal dysplasia (BNOMRD)

  • bilateral multicystic kidneys with renal dysplasia

- +/- hepatic dysplasia

  • +/- hepatic fibrosis without bile duct proliferation

- +/- pancreatic dysplasia

Variants

- isolated bilateral non-obstructive renal dysplasia (isolated BNORD) with Dandy-Walker malformation (#16931025#, #15666242#, #14077166#)

- autosomal recessive hepatopancreaticorenal dysplasia with Dandy-Walker malformation (#1785635#, #4036877#)

Diifferential diagnosis

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

See also

- hepatopancreaticorenal dysplasias

References

- Menon RK, Nadkarni TD, Desai KI, Goel A. Dandy-Walker malformation associated with polycystic kidneys: Goldston syndrome revisited. J Clin Neurosci. 2006 Oct;13(8):875-7. PMID: #16931025#

- Witters I, Devriendt K, Spinnewijn D, Moerman P, Van Assche FA, Fryns JP. MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies. Am J Med Genet. 2002 Jan 22;107(3):233-6. PMID: #11807905#

- 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#

- Gulcan, H.; Duman, N.; Kumral, A.; Sagol, O.; Lebe, B.; Kavukcu, S.; Ercal, D.; Celiloglu, M.; Ozkan, H. : Goldston syndrome: report of a case. Genet. Counsel. 12: 263-267, 2001. PMID: #11693790#

- 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#

- Gloeb, D. J.; Valdes-Dapena, M.; Salman, F.; O’Sullivan, M. J.; Quetel, T. A. : The Goldston syndrome: report of a case. Pediat. Path. 9: 337-343, 1989.

- Kudo, M.; Tamura, K.; Fuse, Y. : Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis: report of two cases. Am. J. Clin. Path. 84: 459-463, 1985. PubMed ID : #4036877#

- Moerman, P.; Pauwels, P.; Vandenberghe, K.; Lauweryns, J. M.; Fryns, J. P. : Goldston syndrome reconsidered. Genet. Counseling 4: 97-102, 1993.

- Tsuru, N.; Mitsudome, A.; Oda, T. : An autopsied case with renal dysplasia, tapeto-retinal degeneration and Dandy-Walker. Nippon Shonika Gakkai Zasshi 84: 247-253, 1980.

- Goldston, A. S.; Burke, E. C.; D’Agostino, A.; McCaughey, W. T. E. : Neonatal polycystic kidney with brain defect. Am. J. Dis. Child. 106: 484-488, 1963. PubMed ID : #14077166#