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Sirenomelia (Mermaid Syndrome): A Case Report
Sirenomelia, which is also known as mermaid syndrome and characterized by the fusion of the lower extremities, is the most severe form of caudal regression syndrome and one of the rare and lethal congenital malformations. The anomalies that might be seen in this syndrome include pelvic-sacral dyspla...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Federation of Turkish Pathology Societies
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10510598/ https://www.ncbi.nlm.nih.gov/pubmed/32525213 http://dx.doi.org/10.5146/tjpath.2020.01491 |
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author | Küçük, Şirin Küçük, İzzet Göker |
author_facet | Küçük, Şirin Küçük, İzzet Göker |
author_sort | Küçük, Şirin |
collection | PubMed |
description | Sirenomelia, which is also known as mermaid syndrome and characterized by the fusion of the lower extremities, is the most severe form of caudal regression syndrome and one of the rare and lethal congenital malformations. The anomalies that might be seen in this syndrome include pelvic-sacral dysplasia, genital anomalies, bilateral pelvic renal fusion accompanied by renal dysplasia, colon atresia, unilateral umbilical artery, and imperforated anus. The incidence of sirenomelia is 0.8-1 cases in 60,000-100,000 deliveries and the male/female ratio is 2.7-3:1. The case reported in the present study was a 13-week-old male fetus 30 g in weight with a macerated appearance. The upper extremities had a relatively normal appearance but the lower extremities were conjoined and there was a single lower extremity consisting of conjoined feet and toes. In the face, the nasal bridge was sunken, the ears had a low position, and there were cleft palate and cleft lip. Examination of the external genital organs revealed that the penile part was in the anal region. There was no anus opening. The crown-rump length was 8.5cm, the heel-toe length was approx. 1cm, and the rump-heel length was approx. 3.7cm. There were none of the two kidneys, ureter, bladder, urethra, or rectum. In the umbilical cord, there were 2 venous structures, one of which was the artery. Perivillous congestion and hyperemia, perivillous calcification, deciduitis, and focal infarct regions were observed in placental tissues. This report aims to discuss this very rare case together with the literature. |
format | Online Article Text |
id | pubmed-10510598 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Federation of Turkish Pathology Societies |
record_format | MEDLINE/PubMed |
spelling | pubmed-105105982023-09-21 Sirenomelia (Mermaid Syndrome): A Case Report Küçük, Şirin Küçük, İzzet Göker Turk Patoloji Derg Case Report Sirenomelia, which is also known as mermaid syndrome and characterized by the fusion of the lower extremities, is the most severe form of caudal regression syndrome and one of the rare and lethal congenital malformations. The anomalies that might be seen in this syndrome include pelvic-sacral dysplasia, genital anomalies, bilateral pelvic renal fusion accompanied by renal dysplasia, colon atresia, unilateral umbilical artery, and imperforated anus. The incidence of sirenomelia is 0.8-1 cases in 60,000-100,000 deliveries and the male/female ratio is 2.7-3:1. The case reported in the present study was a 13-week-old male fetus 30 g in weight with a macerated appearance. The upper extremities had a relatively normal appearance but the lower extremities were conjoined and there was a single lower extremity consisting of conjoined feet and toes. In the face, the nasal bridge was sunken, the ears had a low position, and there were cleft palate and cleft lip. Examination of the external genital organs revealed that the penile part was in the anal region. There was no anus opening. The crown-rump length was 8.5cm, the heel-toe length was approx. 1cm, and the rump-heel length was approx. 3.7cm. There were none of the two kidneys, ureter, bladder, urethra, or rectum. In the umbilical cord, there were 2 venous structures, one of which was the artery. Perivillous congestion and hyperemia, perivillous calcification, deciduitis, and focal infarct regions were observed in placental tissues. This report aims to discuss this very rare case together with the literature. Federation of Turkish Pathology Societies 2020-09-15 /pmc/articles/PMC10510598/ /pubmed/32525213 http://dx.doi.org/10.5146/tjpath.2020.01491 Text en Copyright © 2020 The Author(s). https://creativecommons.org/licenses/by/4.0/This is an open-access article published by Federation of Turkish Pathology Societies under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Case Report Küçük, Şirin Küçük, İzzet Göker Sirenomelia (Mermaid Syndrome): A Case Report |
title | Sirenomelia (Mermaid Syndrome): A Case Report |
title_full | Sirenomelia (Mermaid Syndrome): A Case Report |
title_fullStr | Sirenomelia (Mermaid Syndrome): A Case Report |
title_full_unstemmed | Sirenomelia (Mermaid Syndrome): A Case Report |
title_short | Sirenomelia (Mermaid Syndrome): A Case Report |
title_sort | sirenomelia (mermaid syndrome): a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10510598/ https://www.ncbi.nlm.nih.gov/pubmed/32525213 http://dx.doi.org/10.5146/tjpath.2020.01491 |
work_keys_str_mv | AT kucuksirin sirenomeliamermaidsyndromeacasereport AT kucukizzetgoker sirenomeliamermaidsyndromeacasereport |