The Sirenomelia Sequence: a Case Report

Sirenomelia or mermaid syndrome is a rare congenital condition with a wide phenotypic variation . It was originally named as caudal regression syndrome but it is now known that organs do not regress, they just do not form. An abnormal abdominal and umbilical vascular arrangement of affected individuals, and a primary abnormality in the generation of the mesoderm are two theories suggested for its genesis. Affected individuals show hypoplastic and fused lower limbs, vertebral abnormalities, and agenesis of the renal system, imperforated anus, and genital organs anomalies. Antenatal diagnosis in the first trimester is critical. We report a case of the mermaid syndrome associated with severe oligohydramnios, Potter’s facies, unilateral renal agenesis, and absent external genitalia.

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Sirenomelia - Revisited

National Journal of Clinical Anatomy ◽

10.1055/s-0040-1701716 ◽

2018 ◽

Vol 07 (01) ◽

pp. 047-051

Author(s):

Gaddam Vijaya Lakshmi ◽

Jacob Abraham ◽

Geena Benjamin

Keyword(s):

Umbilical Artery ◽

External Genitalia ◽

Maternal Diabetes ◽

Renal Tissue ◽

Severe Form ◽

Lower Limbs ◽

Single Umbilical Artery ◽

Mermaid Syndrome ◽

Caudal Regression ◽

Congenital Condition

AbstractSirenomelia, commonly known as mermaid syndrome is a rare congenital condition, featured by fusion of the lower limbs. This represents the most severe form of caudal regression syndrome, in which all the structures from the caudal mesoderm fail to develop properly. There is a marked deformity in the musculoskeletal system at the caudal end of the trunk and lower limbs. It is invariably associated with visceral malformations of the urogenital and gastrointestinal systems like agenesis or hypoplasia of renal tissue, blind termination of the colon, absent external genitalia and imperforate anus. It is usually associated with single umbilical artery. Though association with maternal diabetes has been described, the causative mechanisms remain unclear. The condition is generally fatal, due to associated developmental anomalies ofkidneys and other viscera.

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Sirenomelia: A Rare Congenital Anomaly

Journal of SAFOG with DVD ◽

10.5005/jp-journals-10006-1510 ◽

2017 ◽

Vol 9 (3) ◽

pp. 271-273

Author(s):

Davinder Bhardwaj ◽

Shivendra K Sinha ◽

Arvinder K Heer ◽

Pallavi Verma

Keyword(s):

Congenital Anomaly ◽

External Genitalia ◽

The Body ◽

Lower Limbs ◽

Abnormal Development ◽

Complete Fusion ◽

Amniotic Fluid Index ◽

Rare Congenital Anomaly ◽

Mermaid Syndrome ◽

Caudal Regression

ABSTRACT Introduction Sirenomelia is a congenital structural anomaly characterized by abnormal development of the caudal region of the body. The peculiar characteristics of sirenomelia are complete fusion of bilateral lower limbs giving the fetus an appearance of mermaid. The other anatomical defects may be renal agenesis, gastrointestinal defects, and absent external genitalia. The outcome of the condition is usually fatal for the baby despite attempts for corrective surgery. This abnormality was initially confused with caudal regression syndrome, but later was given a new name, i.e., sirenomelia mermaid syndrome. Case report We present a case of a 23-year-old primigravida unbooked case reported at 25 weeks 6 days period of gestation with complaint of decreased fetal movements. The ultrasound was suggestive of single live intrauterine fetus of 24 weeks with severe oligohydramnios (amniotic fluid index 1–2 cm). Based on fetal magnetic resonance imaging, which revealed multiple congenital anomalies including nonvisualization of kidneys and poorly formed lower limbs, provisional diagnosis of sirenomelia with renal aplasia incompatible with life was made. She delivered a baby 943 gm with features and appearance suggestive of mermaid syndrome (sirenomelia). Patient was discharged with advice to report early in next pregnancy. Conclusion Sirenomelia is a very rare disorder, with prevalence of 1 in 100,000 live births with a total of 300 cases reported until today in which 9 are from India. The precise etiology of sirenomelia is not well understood. Many theories have been proposed, but none of these is considered definitive. It is very important to diagnose this universally fatal condition by ultrasonography in early pregnancy, so that termination of pregnancy can be carried out. How to cite this article Verma P, Bhardwaj D, Sinha SK, Heer AK. Sirenomelia: A Rare Congenital Anomaly. J South Asian Feder Obst Gynae 2017;9(3):271-273.

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Mermaid Syndrome

Journal of Nepal Paediatric Society ◽

10.3126/jnps.v38i2.18802 ◽

2019 ◽

Vol 38 (2) ◽

pp. 132-134

Author(s):

Md Abu Bakkar Siddique ◽

Sudip Saha ◽

Kallol Bose ◽

Sudipta Ghorai ◽

Kalimuddin Khan

Keyword(s):

Diabetes Mellitus ◽

External Genitalia ◽

Maternal Diabetes ◽

Vascular Supply ◽

Lower Limbs ◽

Caudal Regression Syndrome ◽

Mermaid Syndrome ◽

Caudal Regression ◽

Maternal Diabetes Mellitus

We report a case of sirenomelia baby (Mermaid syndrome) born to a twenty three years old female at 37 weeks of gestation. Sirenomelia is characterized by fusion of the lower limbs with absent kidneys, absent external genitalia and other gastrointestinal defects. It results from the failure of normal vascular supply from the lower aorta in vitro, maternal Diabetes mellitus has been associated with caudal regression syndrome and sirenomelia.

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Sirenomelia: two case reports

Journal of Medical Case Reports ◽

10.1186/s13256-021-02699-4 ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

Asiyeh Shojaee ◽

Firooze Ronnasian ◽

Mahdiyeh Behnam ◽

Mansoor Salehi

Keyword(s):

Case Reports ◽

Three Dimensional ◽

First Trimester ◽

Mendelian Inheritance ◽

Lower Limbs ◽

Congenital Deformity ◽

White Family ◽

Her Family ◽

Caudal Regression ◽

History Of

AbstractBackgroundSirenomelia, also called mermaid syndrome, is a rare lethal multi-system congenital deformity with an incidence of one in 60,000–70,000 pregnancies. Sirenomelia is mainly characterized by the fusion of lower limbs and is widely associated with severe urogenital and gastrointestinal malformations. The presence of a single umbilical artery derived from the vitelline artery is the main anatomical feature distinguishing sirenomelia from caudal regression syndrome. First-trimester diagnosis of this disorder and induced abortion may be the safest medical option. In this report, two cases of sirenomelia that occurred in an white family will be discussed.Case presentationWe report two white cases of sirenomelia occurring in a 31-year-old multigravid pregnant woman. In the first pregnancy (18 weeks of gestation) abortion was performed, but in the third pregnancy (32 weeks) the stillborn baby was delivered by spontaneous vaginal birth. In the second and fourth pregnancies, however, she gave birth to normal babies. Three-dimensional ultrasound imaging showed fusion of the lower limbs. Neither she nor any member of her family had a history of diabetes. In terms of other risk factors, she had no history of exposure to teratogenic agents during her pregnancy. Also, her marriage was non-consanguineous.ConclusionThis report suggests the existence of a genetic background in this mother with a Mendelian inheritance pattern of 50% second-generation incidence in her offspring.

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Mermaid syndrome

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20171988 ◽

2017 ◽

Vol 6 (5) ◽

pp. 2104

Author(s):

Nisha Marhatta ◽

Deepali Raina

Keyword(s):

World Literature ◽

Umbilical Artery ◽

Renal Agenesis ◽

External Genitalia ◽

Congenital Deformity ◽

Intestinal Loop ◽

Single Umbilical Artery ◽

Live Births ◽

Mermaid Syndrome ◽

The World

Sirenomelia, alternatively known as Mermaid Syndrome, is a very rare congenital deformity in which the legs are fused together, giving them the appearance of a mermaid's tail. This syndrome was originally stated by Rocheas and Palfya in 16th century. It occurs in about 1 in 100,000 live births. It is also associated with multiple anomalies like renal agenesis, ambiguous external genitalia, imperforate anus, blind intestinal loop and single umbilical artery. Occasionally double inferior Venacava, dextrocardia and angiomatous lumbosacral myelocystocele are reported as well. Most of the Sirenomelia come to an end as stillbirth. Only a few are born alive and survival beyond few hours after delivery is extremely rare. About 300 cases have been reported in the world literature so far.

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Particularities of a Fetus with Sirenomelia and Conceptual Separation from Caudal Regression Syndrome

ARS Medica Tomitana ◽

10.2478/arsm-2020-0010 ◽

2020 ◽

Vol 26 (1) ◽

pp. 48-51

Author(s):

Martinescu Alina ◽

Corici Paul Daniel ◽

Jianu Valentina ◽

Francu Valentina

Keyword(s):

Umbilical Artery ◽

First Trimester ◽

Lower Limbs ◽

Complete Fusion ◽

Caudal Regression Syndrome ◽

Fetal Autopsy ◽

First Case ◽

Caudal Regression ◽

Last Stage ◽

Different Characteristics

Abstract Sirenomelia is a very rare congenital anomaly, defined by partial or complete fusion of the lower limbs. Additional malformations may also occur, the phenotype being variable. Over time, sirenomelia has been considered the last stage of the evolution of caudal regression syndrome. However, the different characteristics in the context of the two syndromes, such as the single umbilical artery or, less often, two vessels, renal agenesis and the imperforate anus characteristic of sirenomelia as opposed to caudal regression syndrome where all three umbilical vessels are identified, along with sacral agenesis, led to the separation of the two entities. Sirenomelia is a multifactorial disease, with genetic heterogeneity, most cases being sporadic. Its pathogenesis is incompletely deciphered. Thus, we present a case of sirenomelia, diagnosed after abortion at the end of the first trimester. The fetal autopsy gave us details of skeletal and visceral abnormalities. The sex of the aborted could not be determined due to the incomplete development of the genital tract. To our knowledge, this is the first case reported in Constanta County. We hope that this presentation will be useful in trying to understand the causes of this condition.

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A Triad of Unilateral Renal Dysgenesis with Ipsilateral Seminal Vesical and Ejaculatory Duct Obstruction: An Uncommon Urogenital Congenital Anomaly, Zinner Syndrome—A Case Report

Indian Journal of Radiology and Imaging ◽

10.1055/s-0041-1735503 ◽

2021 ◽

Author(s):

Rajani Gorantla ◽

Sameera Allu ◽

Ankamma Rao

Keyword(s):

Congenital Anomaly ◽

Renal Agenesis ◽

Early Adulthood ◽

Ejaculatory Duct ◽

First Trimester ◽

Reproductive Activity ◽

Urogenital System ◽

Unilateral Renal Agenesis ◽

Duct Obstruction ◽

Ejaculatory Duct Obstruction

AbstractZinner syndrome is a rare congenital anomaly of the urogenital system resulting from an in utero insult during the first trimester. This entity comprises a triad of unilateral renal agenesis/dysgenesis with ipsilateral seminal vesical and ejaculatory duct obstruction. This combination of urinary and genital abnormalities occurs because of the closely related embryological origin of these structures from the distal mesonephric (Wolffian) duct. Nearly 200 cases of seminal vesical cysts with ipsilateral renal agenesis have been reported in the literature. The affected person generally presents in early adulthood when the reproductive activity commences. In this report, we present a case of a 22-year-old male with complaints of painful ejaculation.

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Report of a Sporadic Caudal Regression Syndrome With Cleft Lip and Palate

Journal of Health and Allied Sciences NU ◽

10.1055/s-0040-1708666 ◽

2016 ◽

Vol 06 (03) ◽

pp. 61-63

Author(s):

Rathika D. Shenoy ◽

Swathi Sunil Rao ◽

Vijaya D. Shenoy ◽

Vikram Shetty

Keyword(s):

Congenital Malformation ◽

Lower Limb ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Renal Agenesis ◽

Tethered Cord ◽

Caudal Regression Syndrome ◽

Renal Anomalies ◽

Unilateral Renal Agenesis ◽

Caudal Regression

AbstractCaudal regression syndrome is a rare congenital malformation and can be associated with lower limb and renal anomalies. However caudal regression syndrome and cleft lip and palate (CLP) rarely occur together, the prevalence of sacral anomalies in children with CLP being 0.1%. We hereby report an eighteen month old male child with sporadic lumbosacral agenesis type III with tethered cord, hypospadias, unilateral renal agenesis and CLP for its rarity.

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