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multicystic renal dysplasia with situs inversus totalis

Friday 12 January 2007

Types

- BNOMRD and situs inversus totalis (12605452)

  • renal dysplasia, situs inversus totalis without multisystem fibrosis
  • renal dysplasia, situs inversus totalis and multisystem fibrosis (1570238)
  • renal dysplasia, situs inversus totalis and pancreatic dysplasia (9934983, 10678653)
  • bilateral renal dysplasia with pancreatic fibrosis, meconium ileus and situs inversus totalis (7304173)
  • bilateral renal dysplasia, pancreatic fibrosis, intrahepatic biliary dysgenesis, and situs inversus totalis (3402978)

See also

- SITCDKP syndrome (Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas, situs inversus totalis with renopancreatic dysplasia) (MIM.603643) (HP.5858)

- multicystic renal dysplasia (MRD) with asplenia or hyposplenia (Crawfurd syndrome) (MIM.208540) (HP.7389) (729198)

- Fraser-Jequier-Chen syndrome (chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/absence, micropenis and ambiguous genitalia, imperforate anus) (HP.10673) (2596528)

- renal hypoplasia and situs inversus totalis (HP.10675) (15877680)

References

- Mir S, Akil I. Bilateral renal dysplasia and situs inversus totalis in an infant girl. Am J Med Genet A. 2003 Apr 1;118(1):99-100. PMID: 12605452

- Huang SC, Chen WJ. Renal dysplasia and situs inversus totalis: an autopsy case report and literature review. Chang Gung Med J. 2000 Jan;23(1):43-7. PMID: 10746410

- Balci S, Bostanoglu S, Altinok G, Ozaltin F. New syndrome?: Three sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts. Am J Med Genet. 2000 Jan 31;90(3):185-7. PMID: 10678653

- Balci S, Bostanoglu S, Altinok G, Ozaltin F. Sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts: a new syndrome? Am J Med Genet. 1999 Jan 15;82(2):166-9. PMID: 9934983

- Pinar H, Rogers BB. Renal dysplasia, situs inversus totalis, and multisystem fibrosis: a new syndrome. Pediatr Pathol. 1992 Mar-Apr;12(2):215-21. PMID: 1570238

- Hiraoka K, Haratake J, Horie A, Miyagawa T. Bilateral renal dysplasia, pancreatic fibrosis, intrahepatic biliary dysgenesis, and situs inversus totalis in a boy. Hum Pathol. 1988 Jul;19(7):871-3. PMID: 3402978

- Yoshikawa Y, Watanabe T, Kato N. Bilateral renal dysplasia accompanied by pancreatic fibrosis, meconium ileus, and situs inversus totalis. Acta Pathol Jpn. 1981 Sep;31(5):845-52. PMID: 7304173