Definition: situs inversus totalis with reno-pancreatic dysplasia.

Synopsis

 situs inversus totalis
 renopancreatic dysplastic syndrome

• 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 contracure 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

 renopancreatic dysplastic syndromes

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#