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.

Diabetes mellitus

A group of abnormalities characterized by hyperglycemia and glucose intolerance.

合計: 5

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PMID (PMCID)
22331526	FEMALE	Infant, Newborn
	[Sirenomelia--a rare cause of an oligoanhydramnion in the second trimester--a case report].
	Morfeld CA, Hofstaetter C, Adolf S, Radner H, Schild RL. Z Geburtshilfe Neonatol. 2012;216(1):34-6.
	A risk for sirenomelia can be also found in patients with poorly controlled diabetes mellitus and in monocygotic twins.
21416043	FEMALE	Infant
	Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review.
	Al-Haggar M, Yahia S, Abdel-Hadi D, Grill F, Al Kaissi A. Afr Health Sci. 2010;10(4):395-9.
	Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review.
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.
8330451	FEMALE	Infant, Newborn
	Case reports of malformations associated with maternal diabetes: history and critique.
	Kalter H. Clin Genet. 1993;43(4):174-9.
	Several malformations and malformation complexes have been alleged to be associated with maternal type 1 diabetes mellitus: in particular, sacral dysplasia, caudal regression/sirenomelia, femoral dysplasia, and holoprosencephaly.