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.

Maternal diabetes

Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.


Total: 6

                       


(per page)
PMID (PMCID)
15266776
 MIXED_SAMPLE Infant, Newborn
Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies.
Assimakopoulos E, Athanasiadis A, Zafrakas M, Dragoumis K, Bontis J.
Clin Exp Obstet Gynecol. 2004;31(2):151-3.
The present cases suggest that the pathogenesis of CRS and sirenomelia is more complex than previously thought, that maternal diabetes is not the only underlying pathogenetic mechanism and that genetic or epigenetic factors probably contribute to the formation of these conditions.
15266776
 MIXED_SAMPLE Infant, Newborn
Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies.
Assimakopoulos E, Athanasiadis A, Zafrakas M, Dragoumis K, Bontis J.
Clin Exp Obstet Gynecol. 2004;31(2):151-3.
Maternal diabetes mellitus is considered to be an important predisposing factor for both CRS and sirenomelia.
9132501
 FEMALE
Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.
Chen CP, Shih SL, Liu FF, Jan SW.
J Med Genet. 1997;34(3):252-5.
We report on a female still-birth with cebocephaly, alobar holoprosencephaly, cleft palate, lumbar spina bifida, sirenomelia, a single umbilical artery, and a 46,XX karyotype, but without maternal diabetes mellitus.
9018422
 FEMALE Infant, Newborn
Sirenomelia, limb reduction defects, cardiovascular malformation, renal agenesis in an infant born to a diabetic mother.
Lynch SA, Wright C.
Clin Dysmorphol. 1997;6(1):75-80.
The association of sirenomelia and maternal diabetes is somewhat controversial.
9018422
 FEMALE Infant, Newborn
Sirenomelia, limb reduction defects, cardiovascular malformation, renal agenesis in an infant born to a diabetic mother.
Lynch SA, Wright C.
Clin Dysmorphol. 1997;6(1):75-80.
The link between caudal regression syndrome, sirenomelia and maternal diabetes will be discussed.
8827914
 FEMALE Infant, Newborn
Sirenomelia in an infant of a diabetic mother. A case report.
Gurakan B, Karaaslan E, Balci S.
Turk J Pediatr. 1996;38(3):393-7.
It is believed that there is a connection between sirenomelia and maternal diabetes but this association has not been firmly established.