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.

Hydrocephalus

Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.


Total: 2

                      


(per page)
PMID (PMCID)
9572377
FEMALE Adult
Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association.
Onyeije CI, Sherer DM, Handwerker S, Shah L.
Am J Perinatol. 1998;15(3):193-7.
Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association.
9572377
FEMALE Adult
Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association.
Onyeije CI, Sherer DM, Handwerker S, Shah L.
Am J Perinatol. 1998;15(3):193-7.
In this report, we document a case in which prenatal ultrasonography detected simultaneously occurring sirenomelia and hydrocephalus.