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.

Pulmonary hypoplasia



合計: 1

                      


(表示件数)
PMID (PMCID)
28913090
(5558357)
OTHER
Prenatal diagnosis of sirenomelia in the first trimester: A case report.
Ceylan Y, Dogan Y, Ozkan Ozdemir S, Yucesoy G.
Turk J Obstet Gynecol. 2016;13(1):50-52.
Sirenomelia is fatal in most cases due to the characteristic pulmonary hypoplasia and renal agenesia.