Case Of Sirenomelia Research Articles

Sirenomelia in a Cameroonian woman: a case report and review of the literature

Sirenomelia is a rare congenital malformative disorder characterized by fusion of the lower limbs giving a characteristic mermaid-like appearance to the affected foetus. We report a case of sirenomelia occurring in a 19 year old Cameroonian woman following premature rupture of membranes and associated cord prolapse. This is the first documented case in this country. We highlight some of the cultural myths associated with this disorder and discuss our findings relative to the present literature and related controversies on its etiopathogenesis.

Sirenomelia in a Cameroonian woman: a case report and review of the literature

Sirenomelia is a rare congenital malformative disorder characterized by fusion of the lower limbs giving a characteristic mermaid-like appearance to the affected foetus. We report a case of sirenomelia occurring in a 19 year old Cameroonian woman following premature rupture of membranes and associated cord prolapse. This is the first documented case in this country. We highlight some of the cultural myths associated with this disorder and discuss our findings relative to the present literature and related controversies on its etiopathogenesis.

Sirenomelia: Case Reports and Current Concepts of Pathogenesis

We present 2 cases of sirenomelia and highlight the recent theories about its pathogenesis. Both cases had a large aberrant abdominal umbilical artery (AAUA) arising from the aorta, suggesting vascular steal as the pathophysiology. However, the bilateral upper limb defects noted in 1 case, the reported 10% association of holoprosencephaly and anencephaly, and the reports of sirenomelia with normal umbilical arteries point to the alternative caudal dysgenesis (CD) theory. This proposes that an insult at the early blastogenic stage interferes with the formation of the notochord, resulting in abnormal development of caudal structures, an AAUA, and occasional neural tube defects. We have also analyzed the implications of the similarities between sirenomelia/CD and the VATER association; the increased risk of CD but not sirenomelia in infants of diabetic mothers; the fact that sirenomelia, holoprosencephaly, and the VATER association are all more common in monozygotic twins; the experimental production of sirenomelia in mice; and the possible genetic implications of the co-occurrence of sirenomelia and CD.

Sirenomelia associada a defeitos congênitos raros: relato de três casos

Sirenomelia, an extremely rare congenital defect, is defined as a limb abnormality in which the normally paired lower limbs are replaced by a single midline limb. It is commonly associated with varied genitourinary anomalies. We report three cases of sirenomelia including x-ray documentation of the lower limb. Other associated aspects, whose diagnoses were established exclusively through autopsy, included bilateral renal, ureteral and bladder agenesis, rectal atresia, imperforate anus, intra-abdominal testis, absence of external genitalia and other rare congenital abnormalities.

Sirenomelia in a Cameroonian woman: a case report and review of the literature

Sirenomelia is a rare congenital malformative disorder characterized by fusion of the lower limbs giving a characteristic mermaid-like appearance to the affected foetus. We report a case of sirenomelia occurring in a 19 year old Cameroonian woman following premature rupture of membranes and associated cord prolapse. This is the first documented case in this country. We highlight some of the cultural myths associated with this disorder and discuss our findings relative to the present literature and related controversies on its etiopathogenesis.

Sirenomelia in a Cameroonian woman: a case report and review of the literature

Sirenomelia is a rare congenital malformative disorder characterized by fusion of the lower limbs giving a characteristic mermaid-like appearance to the affected foetus. We report a case of sirenomelia occurring in a 19 year old Cameroonian woman following premature rupture of membranes and associated cord prolapse. This is the first documented case in this country. We highlight some of the cultural myths associated with this disorder and discuss our findings relative to the present literature and related controversies on its etiopathogenesis.

Sirenomelie – eine seltene Ursache für ein Oligo-hydramnion im zweiten Trimester – Ein Fallbericht

Sirenomelia is a rare, but complex and lethal malformation. It is caused by a primary defect of the caudal axial skeleton and damage to the primary streak, which appears due to a vascular steal phenomenon. Sirenomelia appears sporadic with an incidence of 1-64,000 births. A risk for sirenomelia can be also found in patients with poorly controlled diabetes mellitus and in monocygotic twins. Leading ultrasound findings are fusioned lower extremities, bilateral renal agenesis, single umbilical artery and a distinct oligohydramnios. 3D ultrasound and color Doppler sonography can additionally be used for diagnostic, as well as amnioninfusion. There are 3 forms of sirenomelia, depending on missing or presence of the feet it is distinguished as sympus apus, monopus or dipus. We are presenting a case of sirenomelia with sympus dipus, which was transferred for further diagnostic of severe oligohydramnios in 21 weeks of gestation by the gynecologist.

Sirenomelia in a Cameroonian Woman: A Case Report and Review of the Literature

Sirenomelia is a rare congenital malformative disorder characterized by fusion of the lower limbs giving a characteristic mermaid-like appearance to the affected foetus. We report a case of sirenomelia occurring in a 19 year old Cameroonian woman following premature rupture of membranes and associated cord prolapse. This is the first documented case in this country. We highlight the some of the cultural myths associated with this disorder and discuss our findings relative to the present literature and related controversies on its etiopathogenesis.

Possible case of sirenomelia in the Tumaco‐Tolita pottery pre‐Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali‐Colombia

Possible case of sirenomelia in the Tumaco‐Tolita pottery pre‐Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali‐Colombia

P05.12: A case of sirenomelia and anencephaly in a 16 week fetus

P05.12: A case of sirenomelia and anencephaly in a 16 week fetus

OP28.05: Series of sirenomelia cases in the short period of time

OP28.05: Series of sirenomelia cases in the short period of time

Sirenomeli (Mermaid Sendromu) Üç Olgu Sunumu

Sirenomelia is a rare and lethal malformation. It has been considered as an extreme form of caudal regression syndrome. This sporadic defect occurs in approximately 1 in 60000 newborn infants and has male predominance. Maternal diabetes mellitus is accepted to be an important predisposing factor and urogenital, gastrointestinal, cardiopulmonary and central nervous system defects are seen together with the anomaly. In this case presentation, we reported three cases of sirenomelia with multiple organ malformations. Variety of the associated anomalies and the pathological features of these rare cases may enlighten diagnosis of similar cases.

Sirenomelia: a Case Report

Sirenomelia (Mermaid syndrome) is a rare anomaly of caudal region of the body, presented with fusion of the lower limbs. Genito-urinary, gastro-intestinal, neural tube and vertebral anomalies are found in most cases. Here a case of sirenomelia born of a 5th gravida mother is reported. The body had fusion of both lower limbs, absent genitalia, absent anal orifice and single umbilical artery. It died 2 1/2 hours after birth. Autopsy was undertaken to verify various anomalies.

Clusters of sirenomelia in South America

One hospital in the city of Cali, Colombia, of the ECLAMC (Latin-American Collaborative Study of Congenital Malformations) network, reported the unusual occurrence of four cases of sirenomelia within a 55-day period. An ECLAMC routine for cluster evaluation (RUMOR) was followed that included: calculations of observed/expected ratios, site visits, comparison with comprehensively collected local, South American, and worldwide data, cluster analysis, and search for risk factors. All four Cali sirenomelia cases were born to mothers living in a 2 km(2) area, in neighboring communes, within the municipality of Cali. Considering the total births of the city of Cali as the denominator, and based on ECLAMC baseline birth prevalence rates (per 100,000) for sirenomelia (2.25, 95% CI: 2.66, 3.80), the cluster for this congenital abnormality was unlikely to have occurred by chance (observed/expected ratio = 5.77; 95% CI: 1.57-14.78; p = .002). No consistent common factor was identified, but vicinity to an open landfill as the cause could not be rejected. Another ECLAMC hospital in San Justo, Buenos Aires, Argentina, reported three further cases but these did not seem to constitute a nonrandom cluster. The methodology used to evaluate the two possible clusters of sirenomelia determined that the Cali sirenomelia cluster was unlikely to have occurred by chance whereas the sirenomelia cluster from San Justo seemed to be random.

Caudal dysgenesis, sirenomelia, and situs inversus totalis: A primitive defect in blastogenesis

Caudal dysgenesis (CD) constitutes a heterogeneous spectrum of congenital caudal anomalies, including varying degrees of agenesis of the vertebral column, as well as anorectal and genitourinary anomalies. Sirenomelia, characterized by a fusion of the lower limbs, could represent the most severe end of this spectrum. The two main debated pathogenic hypotheses are an aberrant vascular supply versus a primary axial mesoderm defect. We present the autopsy findings of two fetuses of non-diabetic mothers, with normal karyotype. Both fetuses presented situs inversus associated with a CD, in one case consisting of sirenomelia, establishing a very rare association profile that might be random. This association also suggests the occurrence of a common pathogenic mechanism, in accordance to recent genetic data, such as displayed in the Kif3A murine mutation phenotype. Some cases of sirenomelia and CD could represent developmental field defects of blastogenesis involving the caudal mesoderm, rather than being related to vascular insufficiency.

First trimester diagnosis of sirenomelia: a case report and review of the literature

Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by a number of hallmark skeletal anomalies, including fusion of the lower extremities or a single lower limb, bilateral renal agenesis or dysgenesis with absent or hypoplastic renal arteries, oligohydramnios, and the presence of aberrant vasculature. The etiology is still controversial. Prognosis is very poor, with the babies being stillborn or succumbing soon after birth. In the second trimester, oligohydramnios due to renal agenesis makes the diagnosis of sirenomelia difficult. Conversely, in the first trimester, the amniotic fluid volume is usually normal, unrelated to the fetal urine production. Therefore, a first-trimester or early second trimester anatomic survey of the fetus is proposed as preferable and more accurate for the diagnosis of this rare anomaly. In this article, we report a case of sirenomelia detected by two- and three-dimensional ultrasound in the 11th week of gestation and the associated literature is discussed.

UN CASO DE SIRENOMELIA CON CARIOTIPO ISOCROMOSOMA 18q EN MOSAICO

SUMMARY Sirenomelia is a very rare pathology, being its incidence approximately of 1 each 60,000 live born, in that the inferior members are fused. The upheaval in the development of axil caudal blastema would be in the third week and probably due to an alteration of the vascular development. They are frequent associated cardiovascular, gastrointestinals, and respiratory malformations and alterations of the neural tube. A case of sirenomelia in a patient of 23 years old is reported, with antecedent of epilepsy in phenitoyn treatment during two years. In the echographic pursuit the malformation was determined as sirenomelia type VII with presence of bilateral poliquistic kidney, congenital cardiopathy, mielomeningocele, and severe oligoamnios. The infant die at born. Kariotype displayed a mosaic of three cellular lines: 46,XX,i(18)(q10)[9]/46,XX,18,+mar[12]/46,XX[4]. An association established between the use of the anticonvulsivant therapy and the risk of congenital malformations exists. Nevertheless, literature does not establish an association between this type of drugs and chromosomic alterations, not being able to establish a causal relation. It is important, even so, to report the coexistence of this alteration and the sirenomelic phenotype.

Geographical distribution of congenital malformations at Hospital Universitario del Valle, Santiago de Cali, Colombia, March of 2004-February of 2005.

Introduction: Congenital malformations (CM) or morphologic defects at birthday, are seen almost everyday in the Hospital Universitario del Valle (HUV). Objectives: To determine the geographical distribution of HUV births with CM according to the place where pregnancy was sustained. Methods: A descriptive study was done using the database of The Latin-American Collaborative Study of Congenital Malformations in HUV. Population Under study was HUV newborns between March 01/2004 to February 28/2005. Results: Of 6,993 childbirths, a sample of 404 births was obtained, including cases of CM and controls, which 96% lived in socio-economic status 1, 2 and 3. The most frequent defects were extremities’ malformations (18.8%). The greatest number of childbirths, case and controls, where from commune 13 with 37 births (16.5%), followed by commune 14 (21 births, 9.4%), this commune was the only one in which the difference between cases and controls was significant (15 cases-6 controls), moreover, 3 cases of sirenomelia an unusual malformation prevalent in 1 of 100,000 births were identified in this commune. Conclusions: Factor or factors predisposing to main malformations in commune 14 should be identified.

Sirenomelia’s cluster in Cali, Colombia. Report of 4 cases in Hospital Universitario del Valle in 54 days.

The sirenomelia is a strange congenital malformation characterized by fused lower limbs, associated with other visceral abnormalities, which are incompatible with life in the vast majority of cases. Its etiology is not clear until now. Its prevalence is reported among 1 and 2 in 100,000 births. In this paper 4 sirenomelia cases of newborn at Valle University Hospital in Cali, Colombia between December 9, 2004 and February 2, 2005, which would correspond to a prevalence of 3.5 cases per 1000 births for the search time, are presented.

Sirenomelia sequence: early prenatal diagnosis of one rare case associated with acardiac malformation

Sirenomelia sequence is a very rare congenital malformation, with incidence of around 1.5-4.2 per 100,000 births. Prenatal diagnosis of sirenomelia in the first trimester is rare; there are only five cases reported for the present, and the association of sirenomelia with acardiac malformation is even rarer. We present a rare case of sirenomelia associated with acardiac malformation detected in the first trimester through combined two-dimensional, three-dimensional and color Doppler sonographies.