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.

Oligohydramnios

Diminished amniotic fluid volume in pregnancy.

Total: 22

(per page)

PMID (PMCID)
30572488	MIXED_SAMPLE	Infant, Newborn
	Sirenomelia in twin pregnancy: A case report and literature review.
	Xu T, Wang X, Luo H, Yu H. Medicine (Baltimore). 2018;97(51):e13672.
	Sirenomelia is a very rare congenital malformation and characterized by fused lower extremities, oligohydramnios, renal agenesis, absent urinary tract and external genitalia, single umbilical artery, and imperforate anus.
30572488	MIXED_SAMPLE	Infant, Newborn
	Sirenomelia in twin pregnancy: A case report and literature review.
	Xu T, Wang X, Luo H, Yu H. Medicine (Baltimore). 2018;97(51):e13672.
	The sirenomelia twin was diagnosed at the 2nd trimester by ultrasonic examination and complicated with oligohydramnios and a single umbilical artery, another twin was normal.
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 is difficult due to the presence of kidney agenesis and severe oligohydramnios.
28913090 (5558357)	OTHER
	Prenatal diagnosis of sirenomelia in the first trimester: A case report.
	Ceylan Y, Dogan Y, Ozkan Ozdemir S, Yucesoy G. Turk J Obstet Gynecol. 2016;13(1):50-52.
	Prenatal diagnosis of sirenomelia may be difficult in the second or third trimester because of the severe oligohydramnios; it should be easier to diagnose sirenomelia in the first trimester.
28913090 (5558357)	OTHER
	Prenatal diagnosis of sirenomelia in the first trimester: A case report.
	Ceylan Y, Dogan Y, Ozkan Ozdemir S, Yucesoy G. Turk J Obstet Gynecol. 2016;13(1):50-52.
	Prenatal diagnosis of sirenomelia may be difficult in the second or third trimester because of the severe oligohydramnios; it should be easier to diagnose sirenomelia in the first trimester.
28913090 (5558357)	OTHER
	Prenatal diagnosis of sirenomelia in the first trimester: A case report.
	Ceylan Y, Dogan Y, Ozkan Ozdemir S, Yucesoy G. Turk J Obstet Gynecol. 2016;13(1):50-52.
	We identified a single lower extremity and severe oligohydramnios, which are characteristics of sirenomelia.
24281983	FEMALE	Young Adult
	Diagnosis of sirenomelia in the first trimester.
	Singh C, Lodha P, Arora D, Prabhu Sharma A, Kaul A. J Clin Ultrasound. 2014;42(6):355-9.
	In fact, the diagnosis of sirenomelia should be easier in the first trimester as severe oligohydramnios in later gestation hampers vision.
23776071	FEMALE
	Sirenomelia after phenobarbital and carbamazepine therapy in pregnancy.
	Tica OS, Tica AA, Brailoiu CG, Cernea N, Tica VI. Birth Defects Res A Clin Mol Teratol. 2013;97(6):425-8.
	The stillborn, weighing 2200 g, presented sirenomelia type II, with some of its "classic" features: oligohydramnios, absence of kidneys, bladder, rectum, uterus, and a single umbilical artery.
24027732 (3762055)	OTHER
	Sirenomelia: a rare case of foetal congenital anomaly.
	Dharmraj M, Gaur S. J Clin Neonatol. 2012;1(4):221-3.
	The present case is a one of sirenomelia associated with an absent right kidney, mild left hydronephrosis, single umbilical artery, and severe oligohydramnios.
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.
	We are presenting a case of sirenomelia with sympus dipus, which was transferred for further diagnostic of severe oligohydramnios in 21 weeks of gestation by the gynecologist.
21892002	FEMALE	Adult
	Prenatal diagnosis of sirenomelia in the late second trimester with three-dimensional helical computed tomography.
	Ono T, Katsura D, Tsuji S, Yomo H, Ishiko A, Inoue T, Kita N, Takahashi K, Murakami T. Tohoku J Exp Med. 2011;225(2):85-7.
	Because a single lower extremity and severe oligohydramnios are characteristics of the sirenomelia, we suspected sirenomelia.
21892002	FEMALE	Adult
	Prenatal diagnosis of sirenomelia in the late second trimester with three-dimensional helical computed tomography.
	Ono T, Katsura D, Tsuji S, Yomo H, Ishiko A, Inoue T, Kita N, Takahashi K, Murakami T. Tohoku J Exp Med. 2011;225(2):85-7.
	Because a single lower extremity and severe oligohydramnios are characteristics of the sirenomelia, we suspected sirenomelia.
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.
	We report one case of a fetus of sirenomelia sequence with Potters syndrome which showed oligohydramnios and symelia apus.
18360750	FEMALE	Young Adult
	First trimester diagnosis of sirenomelia: a case report and review of the literature.
	Akbayir O, Gungorduk K, Sudolmus S, Gulkilik A, Ark C. Arch Gynecol Obstet. 2008;278(6):589-92.
	Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by a number of hallmark skeletal anomalies, including fusion of the lower extremities or a single lower limb, bilateral renal agenesis or dysgenesis with absent or hypoplastic renal arteries, oligohydramnios, and the presence of aberrant vasculature.
18360750	FEMALE	Young Adult
	First trimester diagnosis of sirenomelia: a case report and review of the literature.
	Akbayir O, Gungorduk K, Sudolmus S, Gulkilik A, Ark C. Arch Gynecol Obstet. 2008;278(6):589-92.
	In the second trimester, oligohydramnios due to renal agenesis makes the diagnosis of sirenomelia difficult.
16752437	FEMALE	Adult
	First trimester diagnosis of sirenomelia.
	Van Keirsbilck J, Cannie M, Robrechts C, de Ravel T, Dymarkowski S, Van den Bosch T, Van Schoubroeck D. Prenat Diagn. 2006;26(8):684-8.
	The sirenomelia sequence is a rare and lethal anomaly characterized by fusion, rotation, hypotrophy or atrophy of the lower limbs and severe urogenital abnormalities leading to oligohydramnios in the second half of pregnancy.
16131367	FEMALE	Infant, Newborn
	Two cases of a fetus with sirenomelia sequence.
	Horikoshi T, Kikuchi A, Tatematsu M, Matsumoto Y, Hayashi A, Unno N. Congenit Anom (Kyoto). 2005;45(3):93-5.
	We report two cases of a fetus with sirenomelia sequence which showed oligohydramnios and a single umbilical artery.
15517539	FEMALE
	The role of color and power Doppler ultrasound in the prenatal diagnosis of sirenomelia.
	Patel S, Suchet I. Ultrasound Obstet Gynecol. 2004;24(6):684-91.
	Sirenomelia is a rare congenital abnormality characterized by a variety of anomalies involving the lower limbs, severe oligohydramnios, bilateral renal agenesis, anorectal atresia and aberrant fetal vasculature.
12940384	FEMALE	Infant, Newborn
	Sirenomelia.
	Banerjee A, Faridi MM, Banerjee TK, Mandal RN, Aggarwal A. Indian J Pediatr. 2003;70(7):589-91.
	Sirenomelia should be suspected in antenatal period in cases presenting with severe oligohydramnios and intrauterine growth retardation for a early diagnosis and appropriate management of pregnancy.
10096177	FEMALE	Adult
	[Prenatal diagnosis of sirenomelia].
	Tonnies P, Watermann D, Gellen J Jr. Zentralbl Gynakol. 1999;121(2):95-7.
	The prenatal diagnosis of fetal sirenomelia combined with bilateral renal agenesis, oligohydramnios and single umbilical artery in a 24-year-old woman, gravida 2, para 1, at a gestational age of 18 + 3 weeks is described in this case report.