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renal-pancreatic dysplasia

Thursday 18 January 2007

Definition: Malformative condition associating a pancreatic dysplasia with a renal dysplasia.

Synopsis

- pancreatic dysplasia
- renal dysplasia.

Variants

- situs inversus totalis with cystic dysplasia of the kidney and pancreas (SITCDKP) (MIM.208540) (HP.5858)

Associations

- situs inversus totalis in SITCDKP (MIM.208540) (HP.5858)
- chondrodysplasia in Fraser-Jequier-Chen syndrome (2596528)
- cleft epiglottis in Fraser-Jequier-Chen syndrome (2596528)
- cleft larynx in Fraser-Jequier-Chen syndrome (2596528)
- hexadactyly of hands and feet in Fraser-Jequier-Chen syndrome (2596528)
- pancreatic cystic dysplasia in Fraser-Jequier-Chen syndrome (2596528)
- renal dysplasia in Fraser-Jequier-Chen syndrome (2596528)
- renal agenesis in Fraser-Jequier-Chen syndrome (2596528)
- micropenis in Fraser-Jequier-Chen syndrome (2596528)
- ambiguous genitalia in Fraser-Jequier-Chen syndrome (2596528)
- imperforate anus in Fraser-Jequier-Chen syndrome (2596528)

References

- Fraser FC, Jequier S, Chen MF. 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. Am J Med Genet. 1989 Nov;34(3):401-5. PMID: 2596528

- Smith DW, Opitz JM, Inhorn SL. A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings. J Pediatr. 1965 Oct;67(4):617-24. PMID: 5832556

- 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

- 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