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Mermaid syndrome or sirenomelia is an extremely rare congenital malformation with an incidence between 1.5 and 4.2 per 1,000,000 pregnancies. Association of mermaid syndrome with VACTERL-H syndrome is extremely rare, with only two cases reported so far in the literature. We present a new case of type I sirenomelia associated with VACTERL-H syndrome and review the relevant literature. A 15-year-old female patient was admitted to the Department of Pathological Pregnancy at St George University Hospital, Plovdiv with progredient abortion during her first pregnancy. She had low socioeconomic status, negative history of concomitant diseases and addictions. The patient avoided prophylactic intake of folic acid during her pregnancy. Prenatal ultrasound found a malformative fetus. Consequently, magnetic resonance imaging was performed which established the presence of hydrocephalus and defects in the lower part of the spine. These pathological findings indicated interruption of pregnancy at 20 weeks of gestation. The fetopathological examination found sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal and ureteric agenesis, bladder agenesis, tracheo-esophageal fistula, agenesis of external genitals, monkey fold of the left palm of the hand, also known as VACTERL-H syndrome. Our case demonstrates that mermaid syndrome and VACTERL-H syndrome represent different manifestations of a single pathological process that results in disorders of the blastogenesis at different stages during embryonic development.&nbsp

BackgroundSirenomelia, 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.

Background Sirenomelia is a rare congenital defect. Its management during pregnancy and after delivery is becoming a controversial issue because of its complex nature and management outcome. The possibility of expectant management in the sirenomelia twin drove us to write this case report. Case presentation We report a case of successful expectant management in twin sirenomelia which was diagnosed in the second trimester. Prenatal counseling of the couple by a multi-disciplinary team regarding the diagnosis, treatment, and prognosis of the sirenomelia twin was done. The mother gave birth, at term, to one normal and one sirenomelia neonate by cesarean section. Conclusion Expectant management of sirenomelia one in twin pregnancy is advisable in a resource-limited setting.

Sirenomelia is a very rare congenital developmental disorder of the lower extremities, and all the other derivatives from the caudal mesoderm, mainly the viscera i.e. kidneys, gonads and hindgut. In the majority of cases, it is incompatible with life in the neonatal period as it is associated with renal agenesis. The importance of detecting this anomaly in the first trimester lies in this lethality in order to offer the option of termination of pregnancy at an earlier gestation. Appropriate counselling at diagnosis is essential to give the couple a clear picture of what they might expect postnatally regarding the renal anomalies or the many surgeries which might be required for the lower limbs and viscera. We present a case series (n = 5) diagnosed by ultrasound at our center between January 2014–2020. Through this brief article, we aim to give a key to the antenatal diagnosis of this rare anomaly, an aid on how not to miss it and its subsequent management.

Contains fulltext : 238607.pdf (Publisher’s version ) (Open Access) Shared anomalies, always located close to the area of coalescence and observable in virtually every type of conjoined twinning, are currently seen as separate anomalies caused by mostly unknown and seemingly unrelated pathways rather than being connected to the twinning mechanism itself. Therefore, most (case) reports about conjoined twins are mere descriptions of (external) dysmorphologies lacking reflections on the possible origin of their concomitant anomalies. As we will demonstrate in this article, shared anomalies are influenced, and in some cases solely and sequentially explained, by interaction aplasia and neo-axial orientation; two embryological mechanisms to which each set of conjoined twins is subjected and are responsible for their ultimate phenotypical fate. In this review, we consider how the ventral, lateral and caudal conjunction types and their intermediates determine the phenotypic presentation of the twins, including patterns of shared malformations and anomalies, which in themselves can be indistinguishable from those encountered in singleton cases. Hence, it can be hypothesized that certain anomalies in singletons originate in a fashion similar to that in conjoined twins.

Sirenomelia is a rare, lethal congenital malformation of the fetus, typically characterized by the fusion of lower limbs and additional malformations involving the lumbosacral spine and urogenital and gastrointestinal tracts. We report a case of sirenomelia with anhydramnios detected during anomaly scan where the fetus had normal morphology of long bones of the lower limbs. There were associated abnormalities of the lumbosacral spine (caudal dysgenesis). The abortus had fused lower limbs, absent external genitalia and anal orifice, single umbilical artery, and Potter facies. We also highlight the interesting diagnostic challenges faced by us during this antenatal ultrasound. To our knowledge, this is the first case report of sirenomelia where the synchronous movement of lower limbs was a clue that led to the timely antenatal detection of this rare entity. This ultimately helped in perinatal counseling of parents to decide on termination of pregnancy.

Sirenomelia is extremely rare congenital malformation that characterized by the complete or incomplete fusion of the low extremities and associated by the various organs’ disorders, such as urinary system, which determined the poor outcome in these infants that died during antenatal or early neonatal period. Prenatal ultrasonography, especially during first-second trimester, permits to establish the presence of sirenomelia. Due to the rarity of this malformation, the own observation of first case of sirenomelia in one infant from twins is presented, which borne in Ukraine. Diagnosis of sirenomelia was established at the planned ultrasonographic screening of multigravida mother. After the birth, neonate with sirenomelia was transferred at the intensive care unit of Lviv regional children’s clinical hospital «OXMATDYT». At the first examination, the throughout fusion of lower extremities, the absent of one kidney, bladder, and external genitalia was revealed. With increasing signs of renal and respiratory failure baby died at 9 days after birth. Conclusions. Sirenomelia is extremely rare congenital malformation that associated with the high mortality during early neonatal period due to the presence of underlying congenital malformations, such as urinary system. Ultrasonography during the prenatal period is the screening methods for the diagnosis of this malformation. No conflict of interest was declared by the authors. Key words: sirenomelia, diagnostic, twins.

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.

Sirenomelia is a very rare developmental abnormality which is characterized by fusion of lower limb to form a single limb. This condition is often associated with internal organ abnormality and is considered incompatible with life. Sirenomelia is sporadically reported from across the world, but no case associated with artificial reproductive technology (ART) has not been reported. We report a case of sirenomelia in a 29-year old woman who conceived by ART, which to our knowledge is the first reported case in ART. The defect was detected early during first trimester and the pregnancy was terminated.

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.

Mermaid syndrome is a rare congenital fetal anomaly with characteristic feature of complete or partial fusion of lower limbs. Although, this syndrome is incompatible with life due to the association of several congenital defect and malformation. In our case Patient was a 31.3 week. A 1.1 kg, preterm infant of unidentified sex was born, a live born, normally delivered at preterm by a 25-year-old primigravida of lower socioeconomic status. Examination of the baby revealed caudal dysgenesis having apparent fusion of the legs into a single lower limb the most severe form, only a single bone is present,with no indication of legs or feet. There was no identifiable external genitalia and anus. Incidentally the infant died after 45 minutes post birth and we report this case due to their rarity and preterm live birth.

Sirenomelia is a rare congenital anomaly which is an extreme example of caudal regression syndrome characterized by lower limb fusion, sacral and pelvic bony anomalies with abnormalities in other organ systems, commonly affecting the gastrointestinal and the urogenital systems (Kanagagiri et al. JMSCR 5(7), 2017). It is a sporadic occurence with no increased risk in subsequent pregnancies. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation (Mirzapur et al. Glob J Reprod Med 3(5):555624, 2018). Prenatal sonographic findings of sirenomelia (or mermaid fetus) were retrospectively reviewed in three proven cases.

An extremely rare case of sirenomelia in dicephalic parapagus twins discordant for anencephaly and spina bifida that was diagnosed after birth is presented. High incidence of congenital anomalies both with sirenomelia and parapagus twins independently make the prognosis much worse, with additional neural tube defect rendering it almost incompatible with life. Termination of pregnancy is advised when diagnosed in utero. Key words: anencephaly, dicephalic parapagus, spina bifida, sirenomelia

Mermaid syndrome is a type of gross fetal anomaly, characterized by the fusion of lower extremities, absent external genitalia, and apparently well-formed abdomen, chest, upper extremities, and head. The neonatal mortality rate due to this anomaly is high, but the disorder is relatively rare. Hence, few cases have been reported in the medical literature, and none in University of Nigeria Teaching Hospital, Ituku-Ozalla, Enugu State.

Background: Sirenomelia is a lethal congenital anomaly, presenting with fusion of lower extremities and malformed perineum. The pathogenesis is unclear, and "defective blastogenesis" is the proposed mechanism. Chlamydia trachomatis (CT) is an obligate intracellular pathogen which reportedly invades placenta and may result in fetal demise. It has documented cytopathogenic effects, specifically, cellular disruption, tissue dysgenesis, and genomic instability.Case report: An infant with sirenomelia was born as a product of 30 weeks of pregnancy, which was normal except for a persistent maternal CT infection. The infant expired shortly after birth.Conclusion: Fetal invasion by CT, conceivably, may induce structural anomalies, such as sirenomelia by virtue of its cytopathic effects. We intend to draw attention to such a possibility by reporting this case. This association, however, is speculative and more cases of sirenomelia with CT positive mothers need to be described in order to make definite conclusions about such a relationship.

Sirenomelia is an extremely rare anomaly characterised by varying degrees of fusion of lower limbs. Anomalies involving uro-genital tract, colo-rectal atresia and vertebral defects are often associated. Prognosis largely depends upon concomitant visceral malformations as well as the degree of fusion defect. Classical sirenomelia is incompatible with life although there are few report of survivors. Prenatal diagnosis, though possible, is difficult to make due to associated anhydramnios and anomalies. Ultrasound is the main diagnostic modality with fetal MRI playing a complementary role. We describe three cases of fetal sirenomelia that presented within a span of 1 year and propose possible vascular insult as the cause.

This paper reviews the plausible etiological mechanisms, clinical features, preoperative analysis, and documented modern-day craniopagus parasiticus surgical separation attempts as well as an historical review of the few cases documented in the literature.We describe the successful separation of a 28-week preterm newborn from its parasite sibling twin bearing lethal congenital anomalies associated to Cantrell's pentad and sirenomelia. Description of the case, plausible explanations on the mechanisms of conjointment along with the associated congenital abnormalities of the deceased twin are examined along with an historical revision of craniopagus parasiticus and their separation attempts with special attention to the previously undocumented attempt of the Dominican CP separation surgery by Lazareff et al. RESULTS: The use of the deceased twin cranial vault tissues (skin, bone, and duramater) as an autologous implant due to the identical genetical profile served to remodel and close the skull of the surviving twin with good esthetic results and no tissue rejection. To our knowledge, this is the youngest preterm set of craniopagus parasiticus separated in an emergency fashion with good functional and esthetic outcome.Craniopagus parasiticus is an infrequent subvariant of this rare form of twin conjointment which may require urgent separation due to the associated malformations of the parasitic twin; therefore, the fact that both siblings are genetically identical may prove as an advantage to use duramater, bone, and soft tissues from the parasitic twin as ideal grafts for covering the resultant defect after the separation has been performed.

Background First-trimester ultrasound scans were introduced to China for nearly 20 years. The ability of first-trimester ultrasound screening to detect different malformations was variable. A recent systematic review concluded that the use of a standardized anatomic protocol was the most crucial factor to improve the sensitivity of first-trimester ultrasound screening for anomalies. Standardized sectional scans have long been used for routine anatomy screening during the second trimester. However, during the first trimester, most of the previous studies have described the observation of anatomic structures but have not specified clearly the standard sectional views. Objective We aimed to determine the performance of routine first-trimester scans using a standardized anatomic protocol for detecting structural abnormalities in China. Study Design This was a large retrospective study involving 59,063 sequential unselected pregnancies. Scans at 11 to 13+6 weeks were performed in a single center during a 7-year span. All fetuses were examined following a predefined protocol for standardized views. Results From October 2008 to December 2015, first-trimester scans were performed in 53,349 pregnant women with available outcome. Of these, there were 1578 (3%) pregnancies that presented with at least 1 fetal structural abnormality. The detection rate for first-trimester screening was 43.1% (95% confidence interval, 40.6%–45.5%). Routine first-trimester scans detected 95.6% of abdominal wall defects, 66.3% of nervous system defects, 33.8% of limbs and skeleton malformations, 30.8% of facial abnormalities, 21.2% of urogenital abnormalities, 18.4% of thoracic and lung abnormalities, and 4.1% of gastrointestinal tract abnormalities. During the first trimester, 37.7% of cardiac defects were identified and included 57.9% of major cardiac defects and 2.6% of mild cardiac defects. A robust high detection rate for anencephaly, exencephaly, cephalocele, holoprosencephaly, exomphalos, gastroschisis, Pentalogy of Cantrell, sirenomelia, and body stalk anomaly was achieved during routine first-trimester scans. Conclusion A standardized anatomic protocol is advised when performing routine first-trimester ultrasound screening. It is recommended that screening for severe structural abnormalities should be extended to the first trimester.

We present a case of sirenomelia diagnosed in the first trimester of pregnancy. The ultrasound examination showed fused lower extremities and an anechoic structure in the lower abdomen that is clue in the early diagnosis. The postmortem study showed the existence of a single umbilical artery (vitelline artery), with an origin in the abdominal aorta. This finding not only explained the presence of a vascular steal with subsequent underdeveloped of pelvic organs, but also differentiated this condition from caudal regression syndrome.

Objective To determine the key sonographic features for the diagnosis of sirenomelia in the first trimester of pregnancy. Methods Cases of sirenomelia from several prenatal diagnosis centers were retrospectively identified and reviewed. The diagnosis was established through the detection of fused lower limbs. Additional sonographic findings were also noted. Results A total of 12 cases were collected. The most striking sonographic finding was the detection of malformed lower limbs, which appeared to be fused and in an atypical position. Nuchal translucency thickness was mildly increased in three cases (25%). An abdominal cyst, representing the dilated blind-ending bowel, was noted in seven cases (58%). Color flow imaging detected a single umbilical artery in six cases (50%) and the associated intra-abdominal vascular anomalies in three cases (25%). No cases of aneuploidy were detected. The pregnancy was terminated in nine cases (75%) and intrauterine demise occurred in the remaining three cases (25%). Conclusions The sonographic detection of abnormal lower limbs or an intra-abdominal cyst located laterally during the first-trimester scan may be warning signs of sirenomelia. This should prompt a detailed examination of the fetal lower body and intra-abdominal anatomy, including the main abdominal vessels, in order to look for additional confirmatory findings.

A 40-year-old pregnant woman presented with a fetal abdominal cyst and oligohydramnios. Color Doppler scan revealed a single blood vessel from the fetal aorta into a single umbilical artery. Severe oligohydramnios limited ultrasonographic evaluation of the fetal lower limbs, kidneys, or bladder. The pregnancy was terminated; the fetus showed fused lower limbs, bulging abdomen, and absent external genitalia and was diagnosed with type III sirenomelia. On autopsy, no normal bladder was observed, but duodenal atresia, anorectal atresia, and right renal agenesis were found. An intra-abdominal cyst, diagnosed histologically as a saccular cloaca, occupied the abdominal cavity. Ultrasonographic diagnosis of fetal sirenomelia is difficult due to poor depiction of the lower limbs. A vitelline artery leading to a single umbilical artery and a fetal abdominal cyst occupying most of the abdominal cavity are considered fetal sirenomelia associated with large defects of the gastrointestinal and genitourinary tracts., 論文

Sirenomelia or the mermaid syndrome is a rare and lethal congenital anomaly. It is characterized by fusion of lower extremities. It is associated with bilateral renal agenesis, anomalies of rectum, sacrum, cardiovascular system and abdominal wall. Pathognomic finding is a single umbilical artery, the ‘persistent vitelline artery’ which distinguishes sirenomelia from caudal regression syndrome. Sirenomelia has strong association with maternal diabetes mellitus. We report a case of sirenomelia diagnosed in first trimester. Early diagnosis was possible as protocol-based anatomic evaluation was performed. Diagnosis of sirenomelia is easier in first trimester as severe oligohydramnios in later gestation hampers the fetal evaluation.

Sirenomelia is a rare congenital structural anomaly characterized by developmental disorders of the caudal region. Abnormalities observed in sirenomelia constitute the most severe form of caudal regression syndrome (CRS). It can be diagnosed by antenatal ultrasonography. The present study aimed to discuss a case with sirenomelia born from a mother with a history of gestational diabetes mellitus (GDM) and hypothyroidism. The present study is the first case report in the literature in which maternal hypothyroidism and sirenomelia were found simultaneously.

Sirenomelia also known as Mermaid syndrome is a rarely encountered fusion anomaly of the caudal region of body often associated with Potter’s facies, single umbilical artery and various visceral abnormalities which make it irreconcilable with life. Here we report a case of sirenomelia delivered in our tertiary care hospital by lower segment cesarean section to a 24 year old third gravida with no previous live issues. No high risk factors could be identified with the mother including diabetes mellitus. Baby was born alive with Potter’s facies. Both the lower limbs were merging into each other like a mermaid’s tail (hence called mermaid syndrome). Sex of the baby could not be identified and the urogenital and anal orifices were absent. Umbilical cord stump had two umbilical arteries. The baby died after 20 hours of life. There appears to be no definitive modality for diagnosing sirenomelia in the antenatal period. However, if a patient has consistently low AFI without any history of leaking per vaginum, high resolution USG or colour Doppler should be done at the earliest to look for the cause.

Background Fused lower limbs combined with severe urogenital malformation, also known as sirenomelia, is a rare congenital clinical syndrome. The etiology is unknown, and the outcome for the affected fetus is rather uncertain. Case report Mrs RB, a Kuwaiti woman primigravida, married to a non-consanguineous husband, had uneventful antenatal care in a private health service, until she was admitted to the Maternity Hospital, Kuwait, at 31 weeks of gestation with a 3-hour history of ruptured membranes. She had a negative family history for diabetes mellitus, and her past surgical/medical/gynecological history was noncontributory. General physical examination revealed a healthy parturient with normal vital signs, clear lungs and normal heart sounds. Obstetric examination revealed a fundal height compatible with the gestational age; there was a single living fetus in breech presentation; she was not in labor. The mother was managed conservatively with antibiotics and dexamethasone injections. Labor ensued later, progressing rapidly to the second stage. Assisted breech delivery was performed, and a live baby, birth weight 1570 g and Apgar score 3/9, was delivered. The neonate had multiple congenital abnormalities, including fusion of both lower limbs, ambiguous genitalia, cloacal anomaly and tracheoesophageal fistula. The neonate was admitted to the neonatal intensive care unit, fully investigated, managed medically and surgically and eventually discharged home after a hospital stay of 123 days for further management. Conclusion A case of peculiar fetal anomaly called sirenomelia, the first case in Kuwait, has been presented. Survival of such babies requires costly management with average results.

Sirenomelia, which is also known as mermaid syndrome, is an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and the lower limbs. Affected infants are born with partial or complete fusion of the legs1. Additional malformations may also occur including genitourinary abnormalities, gastrointestinal abnormalities, anomalies of the lumbarsacral spine and pelvis and absence or underdevelopment (agenesis) of one or both kidneys. Affected infants may have one foot, no feet or both feet, which may be rotated externally. The tailbone is usually absent and the sacrum is partially or completely absent as well. Additional conditions may occur with sirenomelia including imperforate anus, spina bifida, and heart (cardiac) malformations. Sirenomelia is often fatal during the newborn period. The exact cause of sirenomelia is unknown, most cases occur randomly for no apparent reason (sporadically). We report a case of 30 years old primi wt 115 kg, non diabetic, normotensive, euthyroid at 38 weeks pregnancy deliverd a baby with mermaid syndrome.Anwer Khan Modern Medical College Journal Vol. 8, No. 2: Jul 2017, P 144-147

Sirenomelia (otherwise known as Mermaid Syndrome), is a very rare congenital anomaly characterized by variable fusion of lower limbs along with thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary and gastrointestinal tract malformations, with an incidence of 0.8 to 1 case per 100,000 births. This anomaly has a strong association with maternal diabetes, and some researchers consider it to be a severe form of caudal regression syndrome. It is a lethal anomaly, with half of the cases being stillborn and most cases involving live births dying within a few days. We present here a radiological evaluation of a case of sirenomelia in a 28-year-old primigravida with history of occasional cocaine and alcohol use. The fetus had duodenal atrasia, bilateral renal agenesis, caudal dysgenesis, imperforate anus and absent genitalia, as determined by fetal sonogram and fetal magnetic resonance imaging (MRI), which had been carried out for better evaluation. Fetal sonogram revealed sacral dysgenesis, and double bubble sign suggestive of duodenal atresia. Fetal MRI showed bilateral renal agenesis, duodenal atresia and single hypoplastic lower limb. One of two upper limbs was also found to be hypoplastic. After delivery, the stillborn was examined externally. There were no external genitalia and the anus was imperforate. There was a single hypoplastic lower limb. One of two upper limbs was also hypoplastic. Early diagnosis of sirenomelia is necessary for safe termination of pregnancy. However, complete evaluation of a sirenomelia fetus is hindered by associated severe oligohydramnios. Fetal MRI has no such constraints and can demonstrate various anomalies in a greater detail than fetal sonogram.

Sirenomelia, also known as “mermaid malformation/syndrome,” is a rare, serious congenital anomaly characterized by variable degrees of fusion of the lower limbs and associated with severe malformations of vertebral, genitourinary, cardiovascular system and single umbilical artery. The first pregnancy of a 25-year-old woman resulted in one twin born by Cesarian section at 32 weeks’ gestation, who was referred to our hospital with cyanosis, a congenital anomaly and respiratory distress. On physical examination, there was no urogenital region and anal fissure and gender was indeterminate. The arms were in adduction and wrist in flexion position with four fingers on the right hand and two fingers on the left hand. There was a single lower extremity with a webbed single foot and two toes consistent with sirenomelia type IV radiologically. Abdominal ultrasonography showed urogenital system agenesis and echocardiography detected hypoplastic left heart. However, the patient died 4 hours after birth. The other twin was followed for 1 week for nutrition and respiratory support and was then discharged without any problems.

Sirenomelia is a rare developmental malformation and is incompatible to life. The incidence of sirenomelia, as recorded in the literature, is estimated to be approximately between 1.5 and 4.2 per 1,00,000 births. Around 15% of sirenomelia cases are associated with twin pregnancy, most often in monozygotic cases with an incidence of 7%. In monozygotic twins, the risk of sirenomelia is nearly 100–150 times higher as compared to dizygotic twins or singleton pregnancies. Until now, only two cases of sirenomelia associated with hypoplastic left heart have been reported in the literature. Here, we present a monozygotic twin pregnancy, where one fetus was diagnosed with sirenomelia associated with hypoplastic left heart syndrome and the co-twin was absolutely healthy.

PRESENTATION OF CASE We are presenting two cases of Sirenomelia. It derives its name by its resemblance to the Mermaid (Siren) of Greek mythology and called as Mermaid syndrome. It is a rare congenital anomaly which presents with variable degree of fusion of lower limbs, sacral and pelvic bony anomalies, absence of external genitalia, imperforate anus and renal agenesis or dysgenesis. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic. Caudal Regression Syndrome is thought to be the result of injury to the caudal mesoderm early in gestation. Agenesis of left kidney was found in one of our cases on autopsy.

Background Sirenomelia or mermaid syndrome is an extremely rare congenital disorder involving the lower spine and lower limbs. Although usually fatal in the newborn period, survival in a handful of cases beyond infancy have been reported. We would like to present a new born with sirenomelia and multiple anomalies brought in to our hospital soon after birth. Case report A 40 year old Romanian lady G 17, P 16, Ab 0, known diabetic poorly controlled on insulin, delivered at 38 weeks gestation in an ambulance en route to the hospital. On arrival, she was taken directly to the labor ward with ongoing resuscitation efforts with bag and mask and CPR carried out by the paramedics. The baby was noted to be cyanosed and in respiratory distress. Severe congenital abnormalities were obvious and included flattened dysmorphic features, low set malformed ears, upward slanting palpebral fissures, flattened nose, receding chin, short neck, small thoracic cage, ambiguous genitalia, absent anal opening and fused lower limbs. The feet however, were separate. The mother was originally booked in a tertiary referral center where she had undergone antenatal scanning and was counselled on the poor prognosis due to multiple abnormalities detected including but not limited to anhydramnios (that could result in pulmonary hypoplasia), absent left kidney, right cystic dysplastic kidney and cardiac malformation. When the mother was brought in by ambulance into our hospital, we were not aware of the management plan. The baby was therefore intubated and started on positive pressure ventilation as per the protocol. Shortly after, we realized futility after resuscitation became obvious. We received more information regarding the poor prognosis and consequently, extubated the baby at 18 minutes of life and handed over the baby to the mother for comfort care. Genetic blood tests for microarray and karotyping were carried out and revealed female karyotype with normal microarray. Her skeletal survey was requested which showed caudal regression and absence of vertebras after S1, malformed pelvis and soft tissue fusion of both lower limbs, however feet were separated. Conclusion Sirenomelia is an extremely rare and usually fatal congenital malformation. Maternal diabetes, smoking and heavy metal exposure have been implicated as possible etiologies. Therefore, in our opinion poor glycemic control prior to conception and during gestation (especially during the first trimester) could have contributed to this condition.

Background: The sacral region in the fetus can be involved in many pathologies such as spina bifida as the most common spinal abnormality and caudal regression syndrome. On this basis, knowledge about the temporal sequences of sacral ossification centers appearances and other characteristics including bi-iliac distance with newer higher resolution ultrasound technique may be helpful in defining pathologies involving the sacral region and fetal skeletal maturation. Objectives: The goal of this research was to evaluate the timing of ossification of sacral vertebrae and bi-iliac distance as a guidance for clinicians to make an early and reliable diagnosis of sacral region anomalies such as caudal regression syndrome. Patients and Methods: This cross-sectional study was done on 315 normal pregnancies at 14 to 25 weeks of gestational age. The sacral region was evaluated in spine up position, on a coronal plane. By changing the orientation of the probe between sagittal and coronal planes and continuous observation, presence of the ossification center could be confirmed. Then, the level of the central and neural arch centers was recorded in every gestational age. Results: Ossification happened in a predictable caudal direction pattern. S1 and body of S2 were visualized in all cases at 15 - 17 weeks + 6 days and all fetuses with 17 weeks of gestational age. The body of S3 was detected in all cases at 17 weeks and its arch at 20 weeks. Studying all fetuses at 18 weeks of gestation shows sacral ossification in the body and arch of S4. During the study period we had two cases with sirenomelia and three cases with sacral agenesis and we have explained their sacral region findings. Conclusion: By using recent high-resolution ultrasound machines, sacral vertebral ossification centers could be identified in its early gestational age, which could be helpful for earlier detection of sacral pathologies.

Sirenomelia is a very rare congenital anomaly. Type I is the mildest type, and the long bone structures are all normally present with only soft tissue fusion. We experienced a case of type I sirenomelia complicated by severe oligohydramnios. Because of severe oligohydramnios, ultrasonographic images were not very clear. The associated findings with sirenomelia (single umbilical artery and bilateral renal agenesis) were helpful for the prenatal diagnosis of this disease. Detailed sonographic examination of the fetus was thought to be necessary for the accurate prenatal diagnosis of sirenomelia.

Sirenomelia is primarily a congenital anomaly where a normally paired lower limb is replaced by a single midline limb and is characterized by single umbilical artery. Such cases though considered rare do occur at our set-up and to make health workers aware regarding the condition, so that they can be managed well when encountered, lays the importance of reporting such case. A referred case of Sirenomelia from Dhading district hospital was presented to Emergency department of Paropakar Maternity and Women's Hospital on 6th March 2016 of 18 year "Young Primigravida at 34 week and 5 days of gestation in second stage of labor" following ultrasonography diagnosis for better management. After confirming the diagnosis, preterm vaginal delivery was performed with a live baby of 1250 gm consisting of multiple congenital anomalies and poor Apgar score. Such cases do occur at our set-up so that if anomaly scanning is done routinely, they could be picked up early and management becomes easier. Keywords: case report; ectromelia; fused legs and feet; Mermaid syndrome; Sirenomelia.

Rationale: Sirenomelia is a rare congenital malformation that threatens fetal survivals. The cases in which twin with sirenomelia and chromosomal abnormality have been seldomly reported. We reported a dichorionic twin case in which one twin had sirenomelia, the other twin had a normal phenotype, and they had different chromosomal abnormalities. Patient concerns: The abnormal twin was found at 22 weeks by ultrasound. The sirenomelia fetus was complicated with a thoracic stenosis, enlarged rectum without anal opening, the absence of bilateral kidneys, a single umbilical artery, a single lower limb, the abnormal curvature of spine, double outlet of right ventricle, which were the indicatives of the chromosome detection. Diagnosis: The copy number variation of the sirenomelia fetus was detected as a deletion of 4.8Mb in 11p11.12-11q11. The co-twin was found with del(Y)(q11.223q11.23), which was as the same as his father's. The mother had normal chromosome. The parents had normal phenotypes. It was firstly reported a microdeletion with sirenomelia fetus. Interventions: There was no specific treatments for the twins. Outcomes: Intrauterine death of the sirenomelia fetus was found at 27 weeks and postnatal death after inevitable abortion happened to the co-twin. Lessons: Prenatal ultrasound was responsible for recognizing sirenomelia, and the detailed ultrasound scanning and chromosome detection should be done for the co-twin. The etiology of sirenomelia remains unclear, and genetic detection is also necessary for its pathogenesis research.

Sirenomelia in monochorionic diamniotic twins is extremely rare pathology. According to the literature data, there are only 24 cases, in which one or both fetuses had sirenomelia. The incidence rate of sirenomelia ranged from 1.1 to 4.2/60,000–100,000 deliveries and associated with the high lethality during early perinatal period. Here, we present a monochorionic diamniotic twin pregnancy, where one fetus was diagnosed with sirenomelia associated with agenesia of one kidney and bladder, and the co-twin was absolutely healthy.

Sirenomelia is an uncommon complex congenital anomaly associated with fusion of the lower limbs and abnormalities of the urinary and gastrointestinal tract. Most cases of sirenomelia are not diagnosed in utero due to the complexity of the anomalies coupled with anhydramnios. With a male predominance of approximately 3:1, amniocentesis or noninvasive prenatal screening is the only way to confirm the chromosomes and gender of fetuses diagnosed with sirenomelia in utero. Few cases have been reported surviving past the neonatal period and a majority die in utero.

Background Sirenomelia is a rare, but deadly condition characterized by fusion of the lower limbs, lower spinal column defects, severe malformations of the urogenital and lower gastrointestinal tract, and an aberrant abdominal umbilical artery. Methods The two main hypotheses, not mutually exclusive, that have been advanced to explain the pathogenesis of sirenomelia are the blastogenetic theory and the vascular disruption theory. Results We describe a case of sirenomelia, probably associated with the use of methylergonovine maleate, an ergot alkaloid, during the first weeks of pregnancy. Conclusion On the basis of the mechanisms of vascular disruption and early administration of methylergonovine maleate at a critical stage of organogenesis, we conclude that exposure to methylergonovine maleate could be the cause of the development of sirenomelia. Birth Defects Research (Part A) 106:643–647, 2016. © 2016 Wiley Periodicals, Inc.

Background Sirenomelia is a severe malformation of the lower body characterized by a single medial lower limb and a variable combination of visceral abnormalities. Given that Sirenomelia is a very rare birth defect, epidemiological studies are scarce. The aim of this study is to evaluate prevalence, geographic clusters and time trends of sirenomelia in Argentina, using data from the National Network of Congenital Anomalies of Argentina (RENAC) from November 2009 until December 2014. Methods This is a descriptive study using data from the RENAC, a hospital-based surveillance system for newborns affected with major morphological congenital anomalies. We calculated sirenomelia prevalence throughout the period, searched for geographical clusters, and evaluated time trends. Results The prevalence of confirmed cases of sirenomelia throughout the period was 2.35 per 100,000 births. Cluster analysis showed no statistically significant geographical aggregates. Time-trends analysis showed that the prevalence was higher in years 2009 to 2010. Conclusion The observed prevalence was higher than the observed in previous epidemiological studies in other geographic regions. We observed a likely real increase in the initial period of our study. We used strict diagnostic criteria, excluding cases that only had clinical diagnosis of sirenomelia. Therefore, real prevalence could be even higher. This study did not show any geographic clusters. Because etiology of sirenomelia has not yet been established, studies of epidemiological features of this defect may contribute to define its causes. Birth Defects Research (Part A) 106:604–611, 2016. © 2016 Wiley Periodicals, Inc.

La sirenomelia constituye una anomalía congénita rara. Su incidencia es de 1:60.000 nacidos vivos. Es causada por un defecto vascular disruptivo y caracterizado por la fusión de las extremidades inferiores, asociados a anomalías cardiacas, renales, de pared abdominal y torácica, vértebras inferiores, tubo digestivo inferiores, genitales y de las arterias umbilicales. Se presenta la experiencia de un caso de sirenomelia que se ha podido diagnosticar con la ecografia prenatal. Sirenomelia is a very rare congenic anomaly. Being its incidence of approximately 1:60.000 live born, caused by a vascular disruptive defect, characterized by the fusion of lower limbs, associated to cardiac, renal, abdominal wall, and thoracic anomalies; also characterized by inferior vertebrae, inferior digestive tract, genital and umbilical artery anomalies A case of sirenomelia has been diagnosed thanks to prenatal echography.

Objective We aim to determine the accuracy of first-trimester ultrasonography in detecting fetal limb abnormalities. Methods This is a retrospective study of all women undergoing fetal nuchal translucency (NT) assessment and detailed fetal anatomic survey in the first trimester at a single tertiary-care referral center in China. Fetal anatomy scans were repeated in the second trimester. Detection of fetal limb abnormalities was compared between first and second trimester anatomy scans and confirmed at delivery or at autopsy. Results Analyzed were 9438 fetuses from 9197 women (241 twin pairs). The incidence of fetal limb abnormalities was 0.38% (36/9438). Of these, 28 (77.8%) were diagnosed prenatally: 23 (63.9%) on first trimester scan and 5 (13.9%) on second trimester scan. Limb reduction defects (usually transverse limb deficiencies) were the most common limb defects identified in the first trimester (n = 12), followed by clubfoot (n = 4), skeletal dysplasia (n = 3), sirenomelia (n = 1), limb dysplasia (n = 1), malposition (n = 1), and syndactyly (n = 1). Nine fetuses with isolated limb abnormalities had normal NT, while 74.1% (20/27) of limb abnormalities that were associated with other abnormalities had increased NT. Conclusions This study demonstrates that the majority of limb abnormalities detected prenatally [23/28 (82%)] can be identified in the first trimester, especially major limb defects; however, our numbers are small and still need larger cases for further investigation.

This study sought to evaluate the contribution of two-dimensional ultrasound (2D-US) and three-dimensional skeletal imaging ultrasound (3D-SUIS) in the prenatal diagnosis of sirenomelia. Between September 2010 and April 2014, a prospective study was conducted in a single referral center using 3D-SUIS performed after 2D-US in 10 cases of sirenomelia. Diagnostic accuracy and detailed findings were compared with postnatal three-dimensional helical computed tomography (3D-HCT), radiological findings and autopsy. Pregnancy was terminated in all 10 sirenomelia cases, including 9 singletons and 1 conjoined twin pregnancy, for a total of 5 males and 5 females. These cases of sirenomelia were determined by autopsy and/or chromosomal examination. Initial 2D-US showed that there were 10 cases of oligohydramnios, bilateral renal agenesis, bladder agenesis, single umbilical artery, fusion of the lower limbs and spinal abnormalities; 8 cases of dipus or monopus; 2 cases of apus; and 8 cases of cardiac abnormalities. Subsequent 3D-SUIS showed that there were 9 cases of scoliosis, 10 cases of sacrococcygeal vertebra dysplasia, 3 cases of hemivertebra, 1 case of vertebral fusion, 3 cases of spina bifida, and 5 cases of rib abnormalities. 3D-SUIS identified significantly more skeletal abnormalities than did 2D-US, and its accuracy was 79.5% (70/88) compared with 3D-HCT and radiography. 3D-SUIS seems to be a useful complementary method to 2D-US and may improve the accuracy of identifying prenatal skeletal abnormalities related to sirenomelia.

Sirenomelia is a rare congenital anomaly characterized by a single lower extremity which is associated with abnormalities in other organ systems, commonly affecting the gastrointestinal and the urogenital systems. It is sporadic with no increased risk in subsequent pregnancies. In almost all the cases of sirenomelia, a single umbilical artery (SUA) is present which arises from the abdominal aorta. Sirenomelia can be confidently diagnosed in the first trimester while the diagnosis in the second and third trimesters is rendered difficult due to the lack of amniotic fluid in the later gestation. Transvaginal ultrasound and color Doppler have a key role in making the diagnosis and 3D ultrasound helps in better demonstrating the abnormality.