Sirenomelia

Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.

Polydactyly

A congenital anomaly characterized by the presence of supernumerary fingers or toes.


合計: 1

                      


(表示件数)
PMID (PMCID)
19239086
MIXED_SAMPLE Adult
A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail.
Guven MA, Uzel M, Ceylaner S, Coskun A, Ceylaner G, Gungoren A.
Genet Couns. 2008;19(4):419-24.
We are presenting a prenatally diagnosed case with sirenomelia, vestigial tail and polydactyly.