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.

Persistent cloaca

Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.


合計: 1

                      


(表示件数)
PMID (PMCID)
7801305
FEMALE Adult
A fetus with sirenomelia, omphalocele, and meningomyelocele, but normal kidneys.
McCoy MC, Chescheir NC, Kuller JA, Altman GC, Flannagan LM.
Teratology. 1994;50(2):168-71.
Autopsy confirmed the findings of sirenomelia, meningomyelocele, omphalocele, persistent cloaca, and two normal kidneys.