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SITCDKP syndrome

MIM.603643

Friday 18 March 2005

Definition: situs inversus totalis with reno-pancreatic dysplasia.

Synopsis

- situs inversus totalis

- renopancreatic dysplasia (renopancreatic dysplastic syndrome) HP.10707

  • renal non-obstructive multicystic dysplasia
    • immature renal mesenchyme
    • cystically dilated tubules
    • renal cartilage nodules
  • functional hypoplastic bladder
  • pancreatic dysplasia
    • immature pancreatic mesenchyma
    • cystically dilated pancreatic ducts (pancreatic ductal dilatation)
    • pancreatic acinar dysplasia (pancreatic acinar dysgenesis)
    • islet cell agenesis/islet cell dysgenesis

- cerebral ventriculomegaly
- hypoplastic thymus
- normal liver

  • no ductal plate malformation (DPM)
  • no hepatic cysts

- severe intrauterine growth retardation (severe IUGR)
- oligohydramnios sequence

  • oligohydramnios face
  • bowing of the lower limbs
  • bowing of the clavicles
  • pes equinovarus
  • flexion contracture of the hands

Differential diagnosis

- other renopancreatic dysplastic syndromes
- hepatorenopancreatic dysplastic syndromes

  • but situs inversus totalis
  • but absence of hepatic fibrosis or hepatic cysts

See also

- Crawfurd syndrome
- renopancreatic dysplastic syndromes
- multicystic renal dysplasia with situs inversus totalis (MRD with situs inversus totalis)

References

- 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#