multicystic renal dysplasia with situs inversus totalis
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