Sirenomelia also known as the mermaid syndrome, is a rare congenital malformation of uncertain etiology. It is characterized by fusion of the lower limbs and commonly associated with severe urogenital and gastrointestinal malformations. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation.
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Prenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound.
J Huazhong Univ Sci Technolog Med Sci
December 2015
Department of Computerized Tomography, Wuhan Children's Hospital, Wuhan, 430015, China.
This study sought to evaluate the contribution of two-dimensional ultrasound (2D-US) and three-dimensional skeletal imaging ultrasound (3D-SUIS) in the prenatal diagnosis of sirenomelia. Between September 2010 and April 2014, a prospective study was conducted in a single referral center using 3D-SUIS performed after 2D-US in 10 cases of sirenomelia. Diagnostic accuracy and detailed findings were compared with postnatal three-dimensional helical computed tomography (3D-HCT), radiological findings and autopsy.
View Article and Find Full Text PDFSirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital.
BMJ Case Rep
May 2015
Department of Pediatrics, Chiang Mai University, Chiang Mai, Thailand.
Those born with sirenomelia, a rare congenital anomaly, have features resembling a mermaid. Characteristics of sirenomelia are a single lower limb, sacral and pelvic bone defects, and anorectal and urogenital malformations. There is an increased incidence of sirenomelia in males and twins.
View Article and Find Full Text PDFSirenomelia apus: a rare deformity.
J Clin Neonatol
July 2012
Department of Pediatrics, Krishna Institute of Medical Sciences University, Karad, Maharashtra, India.
Sirenomelia also known as the mermaid syndrome, is a rare congenital malformation of uncertain etiology. It is characterized by fusion of the lower limbs and commonly associated with severe urogenital and gastrointestinal malformations. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic.
View Article and Find Full Text PDFSirenomelia apus after trimethoprim exposure: first-trimester ultrasound diagnosis-a case report.
J Clin Ultrasound
April 2013
Slovak Medical University, Bratislava, III. Department of Gynaecology and Obstetrics, 1st Private Hospital Košice-Šaca Inc., Košice-Šaca, Slovak Republic.
We report the early prenatal ultrasound diagnosis of sirenomelia apus at 12+4 weeks in a patient with trimethoprim exposure in the vulnerable period. First-trimester scan revealed a malformed fetus with one femur, one small tibia, no feet, intraabdominal unilocular cystic structure, and two-vessel umbilical cord with allantoic cyst. Ultrasound visualization with two/three/four-dimensions was helpful in the process of parental counseling.
View Article and Find Full Text PDF[Sirenomelia--a rare cause of an oligoanhydramnion in the second trimester--a case report].
Z Geburtshilfe Neonatol
February 2012
Frauenklinik der DHH Hannover, Praxis für Frauenheilkunde und Geburtshilfe Hameln, Institut für Pathologie, Neuropathologie und Molekularpathologie Hannover, Hannover, Germany.
Sirenomelia is a rare, but complex and lethal malformation. It is caused by a primary defect of the caudal axial skeleton and damage to the primary streak, which appears due to a vascular steal phenomenon. Sirenomelia appears sporadic with an incidence of 1-64,000 births.
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