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.

Anal atresia

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.

合計: 3

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PMID (PMCID)
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.
11896526	FEMALE	Adult
	Caudal regression syndrome versus sirenomelia: a case report.
	Das BB, Rajegowda BK, Bainbridge R, Giampietro PF. J Perinatol. 2002;22(2):168-70.
	We describe a newborn with clinical features of sirenomelia including fused lower limbs with medial position, absence of fibula, anal atresia, bilateral renal agenesis, and a single large umbilical artery.
11782287 (64494)	OTHER
	Prenatal diagnosis of Caudal Regression Syndrome : a case report.
	Aslan H, Yanik H, Celikaslan N, Yildirim G, Ceylan Y. BMC Pregnancy Childbirth. 2001;1(1):8.
	BACKGROUND: Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia.