Sirenomelia
| Sirenomelia | |
| Newborn Milagros Cerrón | |
| ICD-10 | Q87.2 |
| ICD-9 | 759.89 |
| MeSH | D004480 |
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Overview
Sirenomelia or Mermaid Syndrome is a very rare congenital deformity in which the legs are fused together, giving the appearance of a mermaid. This condition is found in approximately one out of every 70,000 live births[1] (about as rare as conjoined twins) and is usually fatal within a day or two of birth because of complications associated with abnormal kidney and bladder development and function. It results from a failure of normal vascular supply from the lower aorta in utero. Sirenomelia is associated with maternal diabetes.
There may be a connection to VACTERL association.
This disorder was formerly thought to be an extreme case of Caudal Regression Syndrome; however, it was reclassified to be considered a separate condition.
Notable cases
Only a handful of patients who did not have the usual kidney and bladder complications have survived this condition, three of them being:
- Tiffany Yorks of the United States (born 1988) underwent successful surgery to correct her rare congenital defect, in order to separate her legs.
- Milagros Cerrón[2][3][4][5][6] of Peru (her name meaning "miracles" in Spanish.) Yorks's surgeon, Mutaz Habal, worked in an advisory capacity during Cerrón's operation.
- Shiloh Pepin of Kennebunkport, Maine in the United States [7]
References
- ↑ Kallen B, Castilla EE, Lancaster PA, Mutchinick O, Knudsen LB, Martinez-Frias ML, Mastroiacovo P, Robert E (1992). "The cyclops and the mermaid: an epidemiological study of two types of rare malformation". J Med Genet. 29 (1): 30–5. PMID 1552541.
- ↑ "'Mermaid' Girl Takes First Steps " - 26 September 2006 BBC article providing update on Milagros Cerron.
- ↑ Peru's 'miracle baby' walks on her own at San Francisco Chronicle, 20 April 2007
- ↑ [1] Milagros Cerron.
- ↑ "Peru's 'mermaid' girl doing well" at BBC News, 14 December 2005.
- ↑ Article in Daily Mail
- ↑ "Girl with Mermaid syndrome defies the odds", Portsmouth Herald, 2 August 2007
External links
- KB Taori, K Mitra, NP Ghonge, RO Gandhi, T Mammen, J Sahu. Sirenomelia Sequence (Mermaid)- Report of Three Cases. Ind J Radiol Imag 2002 12:3:399-401
- Birth Disorder Information Directory - contains many pointers to other references
- http://www.sirenomelia.org/en/
Template:Phakomatoses and other congenital malformations not elsewhere classified