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.

Single umbilical artery

Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.

Total: 16

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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.
	A vitelline artery leading to a single umbilical artery and a fetal abdominal cyst occupying most of the abdominal cavity are considered fetal sirenomelia associated with large defects of the gastrointestinal and genitourinary tracts.
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.
31065147	OTHER
	Sirenomelia: A Case Report.
	Kattel P. JNMA J Nepal Med Assoc. 2018;56(214):974-976.
	Sirenomelia is primarily a congenital anomaly where a normally paired lower limb is replaced by a single midline limb and is characterized by single umbilical artery.
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.
15876775	FEMALE	Infant, Newborn
	Sirenomelia apus with vestigial tail.
	Parikh TB, Nanavati RN, Udani RH. Indian J Pediatr. 2005;72(4):367.
	A newborn with clinical features of sirenomelia including fused lower limbs in medial position, absent fibula, anal atresia, complete absence of urogenital system (bilateral renal agenesis, absent ureters, urinary bladder, absent internal and external genitalia), a single umbilical artery and a vestigial tail is reported.
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.
	We present three prospectively assessed cases of sirenomelia, two of which had bilateral renal agenesis, and all of which had a single umbilical artery derived from the aberrant vasculature that accompanies the syndrome.
12619964	FEMALE	Infant, Newborn
	Mermaid syndrome with amniotic band disruption.
	Managoli S, Chaturvedi P, Vilhekar KY, Iyenger J. Indian J Pediatr. 2003;70(1):105-7.
	The single umbilical artery had a high origin, arising directly from the aorta just distal to the celiac axis, which is unique to sirenomelia.
12557967	OTHER	Infant, Newborn
	Sirenomelia dipus in a dizygotic twin.
	Managoli S, Chaturvedi P, Vilhekar KY, Iyenger J, Dutta V, Gagane N. Indian J Pediatr. 2002;69(12):1093-5.
	Apart from the features of sirenomelia, the newborn had a single umbilical artery, radial hypoplasia, total anorectal & urogenital agenesis and undetermined sex.
12424772	FEMALE	Infant, Newborn
	Type II single umbilical artery (persistent vitelline artery) in an otherwise normal fetus.
	Gamzu R, Zalel Y, Jacobson JM, Screiber L, Achiron R. Prenat Diagn. 2002;22(11):1040-3.
	A single umbilical artery resulting from absence of the umbilical arteries and persistence of the vitelline artery that arises directly from the abdominal aorta has been described only in malformed fetuses with sirenomelia or caudal regression.
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.
9695307	FEMALE	Infant, Newborn
	Using polymerase chain reaction for rapid sex-determination of a case of sirenomelia.
	Jin Y, Endo A, Shimada M, Minato M, Takada M, Takahashi S, Harada K, Hayakawa S, Sato K. Acta Paediatr Jpn. 1998;40(3):282-5.
	Physical and pathologic findings included sirenomelia (a single lower extremity mass), lung hypoplasia, bilateral renal agenesis, blind-ending colon, severe deformity of the bony pelvis, an imperforate anus, absence of the bladder, and a single umbilical artery.
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.
9098492	MALE	Infant, Newborn
	Single aberrant umbilical artery in a fetus with severe caudal defects: sirenomelia or caudal dysgenesis.
	Perez-Aytes A, Montero L, Gomez J, Paya A. Am J Med Genet. 1997;69(4):409-12.
	A postmortem arteriogram showed a large single umbilical artery in direct continuation with the abdominal aorta, a unique anomaly almost always related to sirenomelia.