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Abstract
Sirenomelia, which is also known as mermaid syndrome, is an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and the lower limbs. Affected infants are born with partial or complete fusion of the legs. Additional malformations may also occur including genitourinary abnormalities, gastrointestinal abnormalities, anomalies of the lumbar-sacral spine and pelvis and absence or underdevelopment (agenesis) of one or both kidneys. Affected infants may have one foot, no feet or both feet, which may be rotated externally. The tailbone is usually absent, and the sacrum is partially or completely absent as well. Additional conditions may occur with sirenomelia including imperforate anus, spina bifida, and heart (cardiac) malformations. The incidence of sirenomelia is 8-1 case/100000[1] births with male to female ratio being 3:1.[2] Sirenomelia has no definite cause, almost all cases occur without any reason.
Previously, some literatures mentioned that sirenomelia is the severe form of caudal regression syndrome and has many developmental disorders. Recently much literature mentioned sirenomelia is similar but a different disorder. NORD has a different report on caudal regression syndrome.
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References
- Carlson BM Human embryology and developmental biology. 5th edn. Philadelphia, Pa.: Elsevier/Saunders 2014.
- Das BB, Rajegowda BK, Bainbridge R, et al. Caudal regression syndrome versus sirenomelia: a case report. J Peritnatol 2002;22(2):169-70.
- Turnpenny PD, Ellard S. Emery's elements of medical genetics. 15th edn. Philadelphia, Pa.: Elsevier 2017.
- srn MGI Mouse Gene Detail-MGI:98421-siren. www.informatics.jax.org.
- Creasy RK, Resnik R, Greene MF, Creasy and Resnik's maternal-fetal medicine: principles and practice. 7th edn. Philadelphia, Pa: Elsevier Saunders 2014.
- Källén B, Castilla EE, Lancaster PAL, et al. The cyclops and the mermaid: an epidemiological study of two types of rare malformations. J Med Genet 1992;29(1):30-5.
- Orioli IM, Amar E, Arteaga-Vazquez J, et al. Sirenomelia: an epidemiologic study in a large dataset from the international clearinghouse of birth defects surveillance and research, and literature review. Am J Med Genet C Semin Med Genet 2011;157C(4):358-73.
- Stocker JT, Heifetz SA. Sirenomelia. A morphological study of 33 cases and review of the literature. Perspect Pediatr Pathol 1987;10:7-50.
- Zakin L, Reversade B, Kuroda H, et al. Sirenomelia in Bmp7 and Tsg compound mutant mice: Requirement for Bmp signaling in the development of ventral posterior mesoderm. Development 2005;132(10):2489-99.
- Gurakan B, Karaaslan E, Balci S. Sirenomelia in an infant of a diabetic mother. A case report. Turk J Pediatr 1996;38(3):393-7.
- Bruce JH, Romaguera RL, Rodriguez MM, et al. Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum? Fetal Pediatr Pathol 2009;28(3):109-31.
- Savader SJ, Savader BL, Clark RA. Sirenomelia without Potter syndrome: MR characteristics. J Comput Assist Tomogr 1989;13(4):689-91.
- Duhamel B. From the mermaid to the anal imperforation: The syndrome of caudal regression. Arch Dis Child 1961;36(186):152-5.
References
Carlson BM Human embryology and developmental biology. 5th edn. Philadelphia, Pa.: Elsevier/Saunders 2014.
Das BB, Rajegowda BK, Bainbridge R, et al. Caudal regression syndrome versus sirenomelia: a case report. J Peritnatol 2002;22(2):169-70.
Turnpenny PD, Ellard S. Emery's elements of medical genetics. 15th edn. Philadelphia, Pa.: Elsevier 2017.
srn MGI Mouse Gene Detail-MGI:98421-siren. www.informatics.jax.org.
Creasy RK, Resnik R, Greene MF, Creasy and Resnik's maternal-fetal medicine: principles and practice. 7th edn. Philadelphia, Pa: Elsevier Saunders 2014.
Källén B, Castilla EE, Lancaster PAL, et al. The cyclops and the mermaid: an epidemiological study of two types of rare malformations. J Med Genet 1992;29(1):30-5.
Orioli IM, Amar E, Arteaga-Vazquez J, et al. Sirenomelia: an epidemiologic study in a large dataset from the international clearinghouse of birth defects surveillance and research, and literature review. Am J Med Genet C Semin Med Genet 2011;157C(4):358-73.
Stocker JT, Heifetz SA. Sirenomelia. A morphological study of 33 cases and review of the literature. Perspect Pediatr Pathol 1987;10:7-50.
Zakin L, Reversade B, Kuroda H, et al. Sirenomelia in Bmp7 and Tsg compound mutant mice: Requirement for Bmp signaling in the development of ventral posterior mesoderm. Development 2005;132(10):2489-99.
Gurakan B, Karaaslan E, Balci S. Sirenomelia in an infant of a diabetic mother. A case report. Turk J Pediatr 1996;38(3):393-7.
Bruce JH, Romaguera RL, Rodriguez MM, et al. Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum? Fetal Pediatr Pathol 2009;28(3):109-31.
Savader SJ, Savader BL, Clark RA. Sirenomelia without Potter syndrome: MR characteristics. J Comput Assist Tomogr 1989;13(4):689-91.
Duhamel B. From the mermaid to the anal imperforation: The syndrome of caudal regression. Arch Dis Child 1961;36(186):152-5.