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.

Anencephaly



合計: 11

                       


（表示件数）
PMID (PMCID)
30622827
 OTHER
Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis.
Sugiura T, Sato Y, Nakanami N, Tsukimori K.
Case Rep Obstet Gynecol. 2018;2018:7058253.
Three-dimensional HDlive rendering images confirmed the final diagnosis of sirenomelia with anencephaly and rachischisis totalis.
30622827
 OTHER
Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis.
Sugiura T, Sato Y, Nakanami N, Tsukimori K.
Case Rep Obstet Gynecol. 2018;2018:7058253.
Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis.
30622827
 OTHER
Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis.
Sugiura T, Sato Y, Nakanami N, Tsukimori K.
Case Rep Obstet Gynecol. 2018;2018:7058253.
It is commonly associated with severe urogenital and gastrointestinal malformations; however, the association of sirenomelia with anencephaly and rachischisis totalis is extremely rare.
29390297
(5815709)
 FEMALE Young Adult
Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study.
Theofanakis C, Theodora M, Sindos M, Daskalakis G.
Medicine (Baltimore). 2017;96(50):e9020.
Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study.
29390297
(5815709)
 FEMALE Young Adult
Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study.
Theofanakis C, Theodora M, Sindos M, Daskalakis G.
Medicine (Baltimore). 2017;96(50):e9020.
We report a case of combined sirenomelia, anencephaly and complete rachischisis, diagnosed in the 16th week of gestation.
22816558
 FEMALE
Sirenomelia: case reports and current concepts of pathogenesis.
Pillay M, Yesodharan D, Narayanan DL, Jojo A, Luiz N, Nampoothiri S.
Pediatr Dev Pathol. 2012;15(5):403-6.
However, the bilateral upper limb defects noted in 1 case, the reported 10% association of holoprosencephaly and anencephaly, and the reports of sirenomelia with normal umbilical arteries point to the alternative caudal dysgenesis (CD) theory.
1621765
 MIXED_SAMPLE Infant, Newborn
Craniorachischisis totalis and sirenomelia.
Rodriguez JI, Palacios J.
Am J Med Genet. 1992;43(4):732-6.
The pattern of associated malformations in infants with anencephaly and sirenomelia is reviewed.
1867259
 FEMALE Infant, Newborn
Sirenomelia and anencephaly.
Rodriguez JI, Palacios J, Razquin S.
Am J Med Genet. 1991;39(1):25-7.
We report on a monozygotic twin with sirenomelia and anencephaly.
1867259
 FEMALE Infant, Newborn
Sirenomelia and anencephaly.
Rodriguez JI, Palacios J, Razquin S.
Am J Med Genet. 1991;39(1):25-7.
Sirenomelia and anencephaly.
3798361
 FEMALE Infant, Newborn
Sirenomelia and anencephaly in one of dizygotic twins.
Schwaibold H, Oehler U, Helpap B, Bohm N.
Teratology. 1986;34(3):243-7.
The combination of sirenomelia and anencephaly was observed in a stillborn dizygotic twin.
3798361
 FEMALE Infant, Newborn
Sirenomelia and anencephaly in one of dizygotic twins.
Schwaibold H, Oehler U, Helpap B, Bohm N.
Teratology. 1986;34(3):243-7.
Various explanations concerning the genesis of sirenomelia, and also the combination with anencephaly, are discussed.