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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
- Sirenomelia sequence
- Symelia apus (absent feet)/dipus (rudimentary feet)
- Mermaid syndrome, originally described in 1542
- Note: Online Mendelian Inheritance in Man (OMIM) includes sirenomelia with caudal dysgenesis/regression, sacral agenesis, and sacral defect with anterior meningocele under single entry #600145
Definitions
- Rare, usually lethal malformation characterized by variable single lower extremity and other skeletal, gastrointestinal, and genitourinary abnormalities
IMAGING
General Features
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Lecoquierre F et al: Exome sequencing identifies the first genetic determinants of sirenomelia in humans. Hum Mutat. 41(5):926-33, 2020
- Morales-Roselló J et al: Sirenomelia, case report and review of the literature. J Matern Fetal Neonatal Med. 1-4, 2020
- Sepulveda W et al: First-trimester sonographic diagnosis of sirenomelia: a multicenter series of 12 cases and review of the literature. Prenat Diagn. 40(5):626-34, 2020
- Boer LL et al: Sirenomelia: a multi-systemic polytopic field defect with ongoing controversies. Birth Defects Res. 109(10):791-804, 2017
- Isik Kaygusuz E et al: Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. J Matern Fetal Neonatal Med. 29(6):949-53, 2016
- Singh C et al: Diagnosis of sirenomelia in the first trimester. J Clin Ultrasound. 42(6):355-9, 2014
- Clemente CM et al: Sirenomelia with oligodactylia: early ultrasonographic and hysteroscopic embryoscopic diagnosis during the first trimester of gestation. Fetal Diagn Ther. 28(1):43-5, 2010
- Thottungal AD et al: Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis. Am J Med Genet A. 152A(10):2578-87, 2010
- Basbug M et al: Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome. J Clin Ultrasound. 37(5):298-301, 2009
- Akbayir O et al: First trimester diagnosis of sirenomelia: a case report and review of the literature. Arch Gynecol Obstet. 278(6):589-92, 2008
- Rougemont AL et al: Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis. Am J Med Genet A. 146A(11):1470-6, 2008
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
- Sirenomelia sequence
- Symelia apus (absent feet)/dipus (rudimentary feet)
- Mermaid syndrome, originally described in 1542
- Note: Online Mendelian Inheritance in Man (OMIM) includes sirenomelia with caudal dysgenesis/regression, sacral agenesis, and sacral defect with anterior meningocele under single entry #600145
Definitions
- Rare, usually lethal malformation characterized by variable single lower extremity and other skeletal, gastrointestinal, and genitourinary abnormalities
IMAGING
General Features
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Lecoquierre F et al: Exome sequencing identifies the first genetic determinants of sirenomelia in humans. Hum Mutat. 41(5):926-33, 2020
- Morales-Roselló J et al: Sirenomelia, case report and review of the literature. J Matern Fetal Neonatal Med. 1-4, 2020
- Sepulveda W et al: First-trimester sonographic diagnosis of sirenomelia: a multicenter series of 12 cases and review of the literature. Prenat Diagn. 40(5):626-34, 2020
- Boer LL et al: Sirenomelia: a multi-systemic polytopic field defect with ongoing controversies. Birth Defects Res. 109(10):791-804, 2017
- Isik Kaygusuz E et al: Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. J Matern Fetal Neonatal Med. 29(6):949-53, 2016
- Singh C et al: Diagnosis of sirenomelia in the first trimester. J Clin Ultrasound. 42(6):355-9, 2014
- Clemente CM et al: Sirenomelia with oligodactylia: early ultrasonographic and hysteroscopic embryoscopic diagnosis during the first trimester of gestation. Fetal Diagn Ther. 28(1):43-5, 2010
- Thottungal AD et al: Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis. Am J Med Genet A. 152A(10):2578-87, 2010
- Basbug M et al: Prenatal sonographic findings in a fetus with splenogonadal fusion limb defect syndrome. J Clin Ultrasound. 37(5):298-301, 2009
- Akbayir O et al: First trimester diagnosis of sirenomelia: a case report and review of the literature. Arch Gynecol Obstet. 278(6):589-92, 2008
- Rougemont AL et al: Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis. Am J Med Genet A. 146A(11):1470-6, 2008
