Sirenomelia associated with an anterior abdominal wall defect: a case report

Kavunga, Eric Kambale; Bunduki, Gabriel Kambale; Mumbere, Mupenzi; Claude, Kasereka Masumbuko

doi:10.1186/s13256-019-2162-0

Cited by 12 publications

(29 citation statements)

References 21 publications

(27 reference statements)

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“…Sirenomelia is a rare congenital malformation, which is seen in approx. 1/60,000-1,000,000 deliveries (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19). The number of cases reported to date is approx.…”

Section: Discussionmentioning

confidence: 99%

“…RA and Bmp thus regulate each other. The genetic reasons also include balanced translocation including chromosome 16 and triploid mosaic (16)(17)(18)(19)(20)(21). In our case, no genetic analysis was performed.…”

Section: Discussionmentioning

confidence: 99%

“…According to the first hypothesis, the lack of blood supply in the lower extremities develops as a result of the abdominal and umbilical venous structure. According to the second hypothesis, a lack of caudal mesoderm develops as a result of a defect in blastogenesis and the malformations in the lower portion of body develop due to a caudal embryologic development disorder in the early gestation (1,6,7,(10)(11)(12)14,(16)(17)(18)(19)(20)(21).…”

Section: Discussionmentioning

confidence: 99%

“…Several risk factors related with the sirenomelia malformation are maternal diabetes, retinoic acid, exposure to heavy metals and teratogens, genetic factors, monozygotic twins, male gender, and mother's age <20 years or >40 years (1,(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)18). There is a strong relationship between sirenomelia and maternal diabetes; the relative risk ratio is 1/200-250, and this ratio was found to be 22% among the fetuses with anomaly (8,10,11,(16)(17)(18). The male/ female ratio is 2.7-3 (5,6,(16)(17)(18).…”

Section: Discussionmentioning

confidence: 99%

“…Although a possible mechanism is that the extremity bud cannot separate from the primordial cells due to the lack of the posterior mesoderm axis and is unable to rotate during the organogenesis period, it has then been shown that the defect develops in the early period of vascular development. Two main causes were claimed for its pathology: a developmental anomaly in the veins feeding the lower extremities and an anomaly in mesodermal cell migration (1,3,(10)(11)(12)14,(16)(17)(18)(19). Based on the type of fusion, sirenomelia is classified as sympus dipus or symmelia, sympus monopus or uromelia, and sympus apus or sirenomelia (1)(2)(3)(4)(5).…”

Section: Introductionmentioning

confidence: 99%

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Sirenomelia (mermaid syndrome): a case report

Küçük¹,

Kucuk²

2020

TJPATH

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Sirenomelia (mermaid syndrome): a case report

Küçük¹,

Kucuk²

2020

TJPATH

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Prenatal sirenomelia diagnosis in the first trimester: A case report and literature review

Shi,

Kong,

et al. 2023

Clinical Case Reports

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Key Clinical MessageSirenomelia is a lethal condition in the perinatal period. The sonographic examination in the first trimester can effectively detect sirenomelia with a high degree of accuracy. Furthermore, vascular examinations using color flow imaging and augmented imaging techniques such as 3D sonography can improve diagnostic accuracy. Parents should get advice from a multidisciplinary team concerning sirenomelia care and prognosis as soon as possible.AbstractSirenomelia is a rare condition with an uncommon congenital malformation; its most remarkable feature is lower extremity fusion with multiple visceral anomalies. Accordingly, the appearance resembles a mermaid's tail, hence mermaid syndrome. Sirenomelia has an incidence rate of 1.5–4.2 per 100,000 births, a male‐to‐female 2.7:1 ratio, and shows no differences across races. The condition is generally associated with renal agenesis, exterior genitalia defects, a single umbilical artery, and an imperforate anus. Here, we describe the first sirenomelia case in our hospital; a 13‐week‐old fetus with conjoined lower limbs was identified by ultrasound in the first trimester. We discuss this rare case with reference to the literature and provide insights on diagnosing this condition by ultrasound.

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