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.

Absent external genitalia

Lack of external genitalia in a male or female individual.


Total: 3

                       


(per page)
PMID (PMCID)
29707395
(5863329)
 OTHER
Fetal Sirenomelia Associated with an Abdominal Cyst Originating from a Saccular Cloaca.
Kinjo Y, Masamoto H, Nitta H, Kinjo T, Tamaki T, Yoshimi N, Aoki Y.
Case Rep Obstet Gynecol. 2018;2018:7513287.
The pregnancy was terminated; the fetus showed fused lower limbs, bulging abdomen, and absent external genitalia and was diagnosed with type III sirenomelia.
25322991
 FEMALE Infant, Newborn
A rare association: Sirenomelia with adrenalomegaly in an infant of diabetic mother.
Ozturk MA, Bastug O, Halis H, Korkmaz L, Memur S, Sarici D, Kara A.
J Neonatal Perinatal Med. 2014;7(3):253-6.
Sirenomelia is characterized by complete fusion of the lower limbs, commonly associated with renal agenesis, absent external genitalia and other gastrointestinal defects.
19813692
 FEMALE Adult
Sirenomelia, the Mermaid syndrome: case report and a brief review of literature.
Sikandar R, Munim S.
J Pak Med Assoc. 2009;59(10):721-3.
Sirenomelia is characterized by complete fusion of the lower limbs, commonly associated with renal agenesis, absent external genitalia and other gastrointestinal defects.