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Fraser-Jequier-Chen syndrome

Friday 12 January 2007

Synopsis

- chondrodysplasia
- situs inversus totalis
- cleft epiglottis and larynx
- hexadactyly of hands and feet
- pancreatic cystic dysplasia (pancreatic dysplasia, pancreatic dysgenesis)
- bilateral non-obstructive multicystic renal dysplasia (BNOMRD)
- renal agenesis
- micropenis and ambiguous genitalia, imperforate anus) (2596528)

See also

- malformative syndromes

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