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Purpose: Management of fibular hemimelia includes either prosthetic care with or without a suitable amputation or tibial lengthening. Many studies have documented the success of both procedures. Most parents of these children refuse an amputation or have no access to good prosthetic care. The author presents a limb-salvage procedure with tibial lengthening and ankle stabilization. Methods: Twelve children of fibular hemimelia with 14 extremities had been subjected to limb lengthening after lateral leg release. To correct the valgus procurvatum, double oblique diaphyseal osteotomy (DODO) of the tibia was performed in 11 extremities. The age of the patients ranged from two to 15 years with the median of five years. All were male. The proposed procedure included three stages of loosening, lengthening, and stabilization with ankle arthrodesis at a later stage. Results: All patients returned for follow-up for the first four years and had been walking on their sensate feet. With DODO followed by fixator/traction could straighten and lengthen the tibia simultaneously and correct the valgus procurvatum. Ankle stabilization provided stability and a plantigrade foot. A follow-up of six to 30 years with a median of ten years has been reported. Conclusion: A new procedure of loosening, lengthening, and stabilization of the leg with ankle arthrodesis has been proposed. A follow-up of 30 years with a median of ten years of the said procedure has been reported. The procedure provides a long-lasting plantigrade and painless foot that has sensation and proprioception. An amputation at any level has not been recommended. [ABSTRACT FROM AUTHOR]

Abstract Background Sirenomelia or sirenomelia sequence, also known as mermaid syndrome, is a rare congenital anomaly involving the caudal region of the body. The syndrome is characterized by partial or complete fusion of lower extremities, renal agenesis, absent urinary tract, ambiguous external genitalia, imperforate anus, and single umbilical artery. Sirenomelia is often associated with several visceral congenital malformations, rendering it invariably incompatible with extrauterine life. Case presentation We present the case of 22-year-old Black African woman who delivered a term newborn by caesarean section at a gestation age of 37 weeks due to obstructed labor with fetal distress. The newborn was a fresh stillbirth weighing 2100 g and had fusion of the lower extremities, a single upper limb, ambiguous genitalia, imperforate anus, and a cleft lip. The mother had made only two prenatal visits, at which she was found to be normotensive and normoglycemic. She was not screened for routine fetomaternal infections and missed supplementation for folic acid during the critical first trimester. She did not undergo any obstetric ultrasonography. The parents of the newborn were not close relatives and there was no family history of consanguinity. Further genetic testing was not performed due to lack of laboratory capacity, and post mortem examination was not permitted due to cultural taboo and restrictions relating to handling of deceased newborns. Conclusion Sirenomelia is a rare congenital malformation with very poor prognosis. Specific interventions during pre-conception and early prenatal care are critical in the prevention of specific congenital anomalies. Early obstetric ultrasonography is invaluable for diagnosis of sirenomelia as well as counseling for possible termination of pregnancy.

The etiology of sirenomelia is currently unknown. Data are limited in comparing external and internal abnormalities using modern imaging technologies and molecular genetic analysis. The purpose of the current study was designed to compare external and internal anatomical defects in two cases of sirenomelia and Potter's sequence. Considered rare, Potter's sequence is a fetal disorder with characteristic features of bilateral renal agenesis, obstructive uropathy, atypical facial appearance, and limb malformations. The internal and external malformations of two term fetuses with sirenomelia and Potter's sequence were compared using assessment of external features, radiography and MRI on internal structures, and molecular genetic studies on sex determination. Data reveal that both fetuses were male and manifested with an overlapping but distinct spectrum of abnormalities. Principal differences were noted in the development of the ears, brain, urogenital system, lower limbs, pelvis, and vertebral column. Defects of the axial mesoderm are likely to underlie the abnormalities seen in both fetuses. The first one, which had only caudal defects, was found to have a spectrum of abnormalities most similar to those associated with more severe forms of the small pelvic outlet syndrome, although the structure and orientation of the sacrum and iliae were different from previously reported cases. The other had both caudal and cranial defects, and was most similar to those described in the axial mesodermal dysplasia syndrome. Defects associated with sirenomelia can be evaluated with standard gross anatomy examination, radiology, MRI, and modified PCR techniques to determine anatomical abnormalities and the sex of preserved specimens, respectively. Evidence indicated that sirenomelia could be developed via various etiologies. [ABSTRACT FROM AUTHOR]

Fibular hemimelia is a non-lethal congenital lower limb skeletal malformation. It encompasses a broad range from partial to complete absence of fibula. Its incidence is very low worldwide. It affects boys more than girls in a ratio of 2:1. It may occur as an isolated anomaly or associated with other lower extremity anomalies like genu valgum, tibial bowing, ball and socket ankle joint and absent lateral foot ray anomaly. It may be associated with other syndromes including Fuhrmann syndrome, Al-Awadi/Raas-Rothschild syndrome, Roberts syndrome, and femur-fibula-ulna syndrome and FACTO syndrome. This case is not only unique as a rare occurrence in Karachi, Pakistan, but also in bilateral involvement, demonstrated complete absence of fibula i.e. type II fibular hemimelia; in association with a bilateral proximal focal femoral deficiency with pseudoarthrosis and club foot on each side. [ABSTRACT FROM AUTHOR]

Purpose: Fibular hemimelia has denoted a spectrum of postaxial longitudinal deficiency with fibular aplasia/hypoplasia; the term "terminal hemimelia" is reserved for patients with postaxial longitudinal deficiency having a normal fibula. We aimed to delineate the characteristics of terminal hemimelia. Methods: In total, 30 patients with postaxial longitudinal deficiency who had a normal or hypoplastic fibula and visited our institution between 1992 and 2022 were reviewed. Patients were divided into terminal hemimelia and classic fibular hemimelia groups, and their demographic characteristics and clinical and radiographic findings were compared. Results: Femoral shortening, knee valgus, and tibial spine hypoplasia were less common in terminal hemimelia (n = 13) than in classic fibular hemimelia (n = 17) (p = 0.03, p < 0.001, and p = 0.003, respectively). None of the patients in the terminal hemimelia group exhibited knee instability, whereas 12% of patients with classic fibular hemimelia did. Ball-and-socket ankle and absence of lateral rays were commonly observed in both groups. However, tarsal coalition was observed less frequently in terminal hemimelia (p = 0.004). All terminal hemimelia patients exhibited a painless plantigrade foot without ankle instability. Despite limb-length discrepancy at maturity averaging 40.4 mm for terminal hemimelia and 67.0 mm for classic fibular hemimelia (p < 0.001), patients with terminal hemimelia, except for one, exhibited > 20 mm of limb-length discrepancy. However, 46% of them underwent limb-length equalization procedures, mostly single-stage tibial lengthening, at a mean age of 11.2 years. Conclusion: Terminal hemimelia may present with a milder phenotype than classic fibular hemimelia. It mainly overlaps with the symptoms of fibular hemimelia below the ankle joint and manifests as limb-length discrepancy. However, a considerable number of patients with terminal hemimelia required limb-length equalization procedures, for example single-stage tibial lengthening. Level of evidence: level IV. [ABSTRACT FROM AUTHOR]

Abstract Background In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditions. Both tracheal agenesis and tracheal atresia represent rare disorders of still unknown aetiology that cannot be detected by prenatal ultrasound. If the affected foetuses survive until birth these conditions result in respiratory failure and in futile attempts to rescue the infant’s life. Results Autopsies and genetic analyses, including singleton or trio exome sequencing, were performed on five neonates/foetuses with tracheal agenesis and three foetuses with tracheal atresia. Tracheal agenesis was characterized by absence of the sublaryngeal trachea and presence of a bronchooesophageal fistula and by pulmonary isomerism and occurred as an isolated malformation complex or as part of a VACTERL association. Special findings were an additional so-called ‘pig bronchus’ and a first case of tracheal agenesis with sirenomelia. Tracheal atresia presenting with partial obliteration of its lumen and persistence of a fibromuscular streak resulted in CHAOS. This condition was associated with normal lung lobulation and single, non-VACTERL type malformations. Trio ES revealed a novel variant of MAPK11 in one tracheal agenesis case. Its involvement in tracheooesophageal malformation is herein discussed, but remains hypothetical. Conclusion Tracheal agenesis and tracheal atresia represent different disease entities in terms of morphology, pathogenesis and accompanying anomalies due to a primary developmental and secondary disruptive possibly vascular disturbance, respectively.

Background: In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditions. Both tracheal agenesis and tracheal atresia represent rare disorders of still unknown aetiology that cannot be detected by prenatal ultrasound. If the affected foetuses survive until birth these conditions result in respiratory failure and in futile attempts to rescue the infant's life. Results: Autopsies and genetic analyses, including singleton or trio exome sequencing, were performed on five neonates/foetuses with tracheal agenesis and three foetuses with tracheal atresia. Tracheal agenesis was characterized by absence of the sublaryngeal trachea and presence of a bronchooesophageal fistula and by pulmonary isomerism and occurred as an isolated malformation complex or as part of a VACTERL association. Special findings were an additional so-called 'pig bronchus' and a first case of tracheal agenesis with sirenomelia. Tracheal atresia presenting with partial obliteration of its lumen and persistence of a fibromuscular streak resulted in CHAOS. This condition was associated with normal lung lobulation and single, non-VACTERL type malformations. Trio ES revealed a novel variant of MAPK11 in one tracheal agenesis case. Its involvement in tracheooesophageal malformation is herein discussed, but remains hypothetical. Conclusion: Tracheal agenesis and tracheal atresia represent different disease entities in terms of morphology, pathogenesis and accompanying anomalies due to a primary developmental and secondary disruptive possibly vascular disturbance, respectively. [ABSTRACT FROM AUTHOR]

Denoising is an essential step in data mining. It makes an effort to remove noise from the picture without sacrificing any of the important elements. The primary method utilized in this project to assess the effectiveness of phocomelia images is Kmeans clustering. The PSNR and MSE values of the denoised image are computed. In the end, the best technique for denoising medical images is chosen based on the PSNR values from the collection of patient data necessary for the fitting of upper limb devices. Using image processing, the bone health of phocomelia patients are evaluated and specific information extracted from MRI scans. Electromyography (EMG) sensors pick up electrical impulses, convert them into hand movements that the user wants, and flex the muscles in the residual limb directly below the elbow. The same muscles that enable hand function in humans are also felt by the system using microcontrollers. Through the integration of sophisticated sensor technologies with responsive prosthetic design idea, this newly developed technique enhances feedback from the proprioceptive system for patients with phocomelia, hence promoting natural movement and improving functional outcomes. As a result, it provides phocomelia patients a special method for acquiring superior result from biofeedback system. [ABSTRACT FROM AUTHOR]

Background: Phocomelia is a congenital limb deformity in which the proximal part of the upper or lower limb does not develop. Occasionally the malformed limb may be located ectopically. Case report: We present a frontal phocomelia in a three-year-old girl with right-hand phocomelia and thoracoschisis. The patient's arm was connected directly from the front of the chest, with a rudimentary thumb and two fingers. The truncated arm was not functional. The acromioclavicular joint was abnormal and ectopic, the limb articulated with the medial side of sternum. The thoracoschisis manifested as eventration of the right liver lobe and right side of chest wall. Conclusion: Ectopic phocomelia can be associated with thoracoschisis, it can be nonfunctional, and can articulate with the sternum. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Sirenomelia 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. Sirenomelia 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. [ABSTRACT FROM AUTHOR]

In this study, we studied historical case notes to examine nomenclature of congenital upper limb anomalies and explore the changes in terminologies over time. Original diagnoses were reclassified according to previously published classifications and the most recent Oberg, Manske and Tonkin system. Two hundred and thirty-eight case notes were obtained from the period 1961–1991. Hand plate malformations where the diagnosis was obvious or traumatic defects, were excluded. Eighty-six cases (106 extremities) were finally included where an ambiguous diagnosis, such as 'congenital absence' was initially given. None of the re-classifications matched the original diagnoses except for cleft hand and radial dysplasia (n = 31). Eighteen phocomelia-type limbs were re-classifiable when seen as a continuum of longitudinal deficiency, but not as an intercalary deficit. This study provided further insights into the evolving nature of nomenclature in congenital upper limb anomalies, especially for the condition of phocomelia. Level of evidence: IV [ABSTRACT FROM AUTHOR]

Background: Fibular Hemimelia (FH) is the most common longitudinal limb deficiency. Significant limb length discrepancy (LLD) will necessitate long treatment times and multiple settings to compensate for LLD when associated with femoral shortening. This study evaluates the outcome of simultaneous femoral and tibial lengthening using the Ilizarov frame. Methods: This retrospective study included the cases of 12 children with severe limb length discrepancy caused by combined FH and ipsilateral femoral shortening from May 2015 to August 2022. The total LLD ranged from 7 to 14.5 cm. All patients underwent single-session femoral and tibial lengthening using the Ilizarov ring external fixator technique. Additional procedures were performed in the same setting, including Achilles tendon lengthening, fibular anlage excision, peroneal tendons lengthening, and iliotibial band release. Follow-up ranged from 2 to 4 years. Results: The planned limb lengthening was achieved in ten cases (83%). No cases of joint subluxation or dislocation were encountered. No neurovascular injury has occurred during the treatment course. In all cases, the bone healing index was better on the femoral side than on the tibia. Poor regeneration and deformity of the tibia occurred in two cases (16.6%). Conclusion: Simultaneous femoral and tibial lengthening using the Ilizarov fixator is a relatively safe procedure with the result of correction of total LLD in one session in a shorter time and less morbidity. [ABSTRACT FROM AUTHOR]

This report details the case of a neonate born at 39 weeks of gestation with dysmorphic features (Sirenomelia). After three hours of admission, the patient suffered from a cardiac arrest. Cardiopulmonary resuscitation was performed for 20 minutes, but there was no response, and the neonate died. Sirenomelia is an unusual and fatal congenital deformity, the most severe condition of caudal regression syndrome. This syndrome can cause pelvic-sacral dysplasia, genital anomalies, bilateral pelvic renal fusion with renal dysplasia, colon atresia, unilateral umbilical artery, and imperforated anus.

Background: Sirenomelia is a rare congenital anomaly characterized by the fusion of two lower limbs, resulting in the mermaid’s tail appearance. Sirenomelia is a very rare syndrome and can be fatal to the infant. This syndrome might be sporadic or have a genetic basis. The etiology of sirenomelia is unknown but said to be multifactorial. Some maternal factors associated with sirenomelia include diabetes melitus, maternal age under 20 years and monozygote twinning.Case report: This report presented four cases of sirenomelia that occurred during 2006-2019 at Fatemieh Hospital, a tertiary maternal-neonatal center, Hamadan, Iran. All of the pregnancies were complicated by oligohydramnios. None of the mothers were younger than 20 years, and none had diabetes mellitus. Moreover, their drug history during pregnancy was negative. All newborns had low Apgar scores and died a few minutes after birth, indicating their poor outcomes. None of the cases were diagnosed prenatally, and all newborns were firstborn infants.Conclusion: Sirenimelia is a rare lethal condition, which requires prenatal diagnosis for abortion planning.

Key Clinical Message Sirenomelia 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. Abstract Sirenomelia 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.

Background: Congenital tibial hemimelia (CTH [MIM: 275220]) is a rare congenital limb deficiency that manifests as a shortened, curved, dysplastic or absent tibia with polydactyly. In previous studies, mutations of a distant sonic hedgehog (SHH) cis-regulator (ZRS) and a Shh repressor (GLI3) were identified. Case presentation: Here, we admitted a 20-month-old boy who manifested with right tibial deformity, varus foot, ankle dislocation, and ipsilateral preaxial polydactyly. After genetic sequencing and data analysis, the results revealed a 443 A > G mutation in the father and a 536 C > T mutation in the mother in exon 2 of the Smoothed (SMO) gene at 7q32.1, with the coexistence of both mutant alleles in the proband/patient. Conclusions: Our report suggests that even though not previously reported, SMO mutations may be associated with limb anomalies such as tibial hemimelia via Hh signaling in humans and has implications for genetic counseling. [ABSTRACT FROM AUTHOR]

Caudal developmental defects, including caudal regression, caudal dysgenesis and sirenomelia, are devastating conditions affecting the skeletal, nervous, digestive, reproductive and excretory systems. Defects in mesodermal migration and blood supply to the caudal region have been identified as possible causes of caudal developmental defects, but neither satisfactorily explains the structural malformations in all three germ layers. Here, we describe caudal developmental defects in transmembrane protein 132a (Tmem132a) mutant mice, including skeletal, posterior neural tube closure, genitourinary tract and hindgut defects. We show that, in Tmem132a mutant embryos, visceral endoderm fails to be excluded from the medial region of early hindgut, leading directly to the loss or malformation of cloaca-derived genitourinary and gastrointestinal structures, and indirectly to the neural tube and kidney/ureter defects. We find that TMEM132A mediates intercellular interaction, and physically interacts with planar cell polarity (PCP) regulators CELSR1 and FZD6. Genetically, Tmem132a regulates neural tube closure synergistically with another PCP regulator Vangl2. In summary, we have identified Tmem132a as a new regulator of PCP, and hindgut malformation as the underlying cause of developmental defects in multiple caudal structures. [ABSTRACT FROM AUTHOR]

Phocomelia is a congenital condition involving malformations of the arm and leg, resulting in a finlike appendage. It is often caused by the mother’s use of the drug thalidomide during pregnancy, with various mechanisms being proposed. There is no specific treatment for phocomelia or amelia, but in certain cases surgical intervention may be recommended to improve limb function or other functional outcomes. This case report concerns a ten-year-old female patient with congenital amelia of the upper extremities and phocomelia of the lower extremities who was admitted to the hospital for elective thoracic scoliosis surgery It is a demanding and long-term operation with estimated major blood loss. In addition, the prone position of the patient makes access difficult in case of resuscitation, and therefore the role of the anesthesiologist in the care of such patients is crucial in the perioperative period. When caring for such patients, there are many technical difficulties, starting with the monitoring of arterial pressure values. Furthermore, difficulties may arise related to peripheral venous access, which can be a great challenge, and the placement of a central venous catheter is sometimes indicated. Also, intubation can be difficult due to limited mobility of the cervical spine. Early and adequate preoperative assessment of the patient is essential for the induction and maintenance of safe anesthesia and postoperative care. The current review of the literature does not reveal strict recommendations on the optimal treatment of these patients. Due to all the above-mentioned difficulties, preoperative preparation and assessment are of key importance for the introduction and maintenance of safe anesthesia, as well as postoperative care. [ABSTRACT FROM AUTHOR]

Background: Sirenomelia is a rare congenital anomaly characterized by the fusion of two lower limbs, resulting in the mermaid’s tail appearance. Sirenomelia is a very rare syndrome and can be fatal to the infant. This syndrome might be sporadic or have a genetic basis. The etiology of sirenomelia is unknown but said to be multifactorial. Some maternal factors associated with sirenomelia include diabetes melitus, maternal age under 20 years and monozygote twinning. Case report: This report presented four cases of sirenomelia that occurred during 2006-2019 at Fatemieh Hospital, a tertiary maternal-neonatal center, Hamadan, Iran. All of the pregnancies were complicated by oligohydramnios. None of the mothers were younger than 20 years, and none had diabetes mellitus. Moreover, their drug history during pregnancy was negative. All newborns had low Apgar scores and died a few minutes after birth, indicating their poor outcomes. None of the cases were diagnosed prenatally, and all newborns were firstborn infants. Conclusion: Sirenimelia is a rare lethal condition, which requires prenatal diagnosis for abortion planning. [ABSTRACT FROM AUTHOR]

Sirenomelia, also known as mermaid syndrome, is a very rare lethal congenital disorder with multisystem malformations, characterized by fusion of the lower limbs. Here we report a preterm neonate with fusion of the lower limbs. The baby was born by cesarean section to a 27-year-old primigravida mother at 35 weeks and 3 days’ gestation. There was no maternal history of hypertension, heart disease, asthma, or diabetes mellitus. At birth, the infant did not cry, had weak tone, a heart rate (HR) of

Sirenomelia or mermaid syndrome is a rare and lethal malformation. It is characterized by a single lower limb with various degrees of fusion, single umbilical artery, urogenital abnormalities, and absent external genitalia. Two major mechanisms proposed in its pathogenesis are the vascular steal hypothesis and the defective blastogenesis hypothesis. Here, we introduce a 24-year-old female first-born neonate with mermaid syndrome. She had severe oligohydramnios and a history of consumption of some unknown medication for the treatment of alopecia.

The mermaid syndrome, also known as sirenomelia, is considered an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and lower limbs. Affected babies are born with partial or total leg fusion. Sirenomelia is thought to affect one in every 60,000 to 100,000 infants. We report a case of sirenomelia occurring in a 28-year-old multiparous woman, a heavy smoker with gestational diabetes. In the other 5 pregnancies, however, she gave birth to normal babies. The post mortem examination completed the diagnosis, revealing also multiple malformations of several systems: respiratory, gastro-intestinal, genito-urinary and cardiovascular. In our full term neonate case with grade VI sirenomelia, the presence of a single umbilical artery plus the abdominal aorta with an aberrant trajectory that ends in the umbilical cord differentiates this condition from caudal regression syndrome and also explains the under-development of pelvic organs (secondary to vascular steal phenomena).

This article, titled "EP07.51: An early ultrasound diagnosis of sirenomelia (mermaid syndrome)," discusses a case of sirenomelia, a rare condition characterized by the fusion of the legs, detected at 12 weeks of gestation in a healthy woman. The ultrasound scan revealed abnormalities such as the absence of lower legs, a cystic structure in the fetal abdomen, and a single umbilical artery. The patient opted for a chorionic villus sampling (CVS) and chose to terminate the pregnancy while awaiting the results. The article also mentions the theories behind the cause of sirenomelia and the risk factors associated with the condition. [Extracted from the article]

Sirenomelia is an extremely rare anomaly, an incidence of 1 to 4.2 in 100,000 births, in which a newborn born with legs joined together featuring amermaid-like appearance (head and trunk like humans and tail like fish), and in most cases die shortly after birth. Gastrointestinal and urogenital anomalies and single umbilical artery are clinical outcome of this syndrome. There are two important hypotheses for pathogenesis of mermaidsyndrome: vitelline artery steal hypothesis and defective blastogenesis hypothesis The cause of the sirenomelia is unknown, but there are some possible factors such as age younger than 20 years and older than 40 years in mother and exposure of fetus to teratogenics. Here, we introduced 39 year old mother’s first neonate with Sirenomelia syndrome. The mother had gestational diabetes mellitus and neonate was born with single lower limb, ambiguous genitalia, and thumb anomalies, and 4 days after birth, the neonate dieddue to multiple anomalies and imperforated anus.

Introduction: Phocomelia is an uncommon congenital condition in which the hand or foot are normal or almost normal but the proximal section of the limb – the humerus or femur, radius or tibia, ulna or fibula –_is missing or noticeably hypoplastic. It refers to how the patient's limbs resemble marine creatures' flippers and its prevalence is 0.62 in 100,000 births. Case: We present a 15-min-old male neonate born to a para-four mother who did not remember her LNMP but claimed to be amenorrheic for the past nine months. The mode of delivery was by cesarean section to extract alive neonate weighing 2.01 kg with APGAR scores of 5 and 6 at first and fifth minutes, respectively. The neonate did not cry and was resuscitated for five minutes. He was then transferred to neonatal intensive care unit for further management and investigations. His vital signs were pulse rate 160 beats per minute, respiratory rate 70 breaths per minute, temperature 33.4 degrees centigrade and saturation was 60% off oxygen. On HEENT anterior fontanelle measures 2 cm by 2 cm and has micrognathia and short neck. On the respiratory system, there were intercostal and subcostal retractions, labored breathing and grunting. On the musculoskeletal system there is bilateral upper extremity shortening, the right lower limb was normal in position and structure, the left leg rotated inward (bent in medially) at the knee joint and foot was normal in structure. Conclusion: Phocomelia is a rare congenital anomaly in which the hand or foot are directly attached to the trunk. Ultrasonography should be done as early as possible to identify fetal anomalies in order to plan subsequent management. [ABSTRACT FROM AUTHOR]

Methotrexate (MTX), a folate antagonist, is used in various fields, including malignancies and rheumatoid or inflammatory autoimmune diseases. MTX is used for the non-surgical treatment of ectopic pregnancies and the elective termination of pregnancy. The teratogenic effects of MTX have been recognized since the 1960s. Fetal methotrexate syndrome (FMS) was established based on the study of congenital anomalies. Generally, there is a risk of FMS when MTX is used between four and six weeks after conception. Here, we reviewed the literature regarding MTX usage and described a case of FMS that was born with a rare anomaly, such as tibial hemimelia, in a mother who had received MTX 4 months before conception for the management of an ectopic pregnancy. [ABSTRACT FROM AUTHOR]

Axin1 is a key regulator of canonical Wnt signaling pathway. Roles of Axin1 in skeletal development and in disease occurrence have not been fully defined. Here, we report that Axin1 is essential for lower limb development. Specific deletion of Axin1 in limb mesenchymal cells leads to fibular hemimelia (FH)-like phenotype, associated with tarsal coalition. Further studies demonstrate that FH disease is associated with additional defects in Axin1 knockout (KO) mice, including decreased osteoclast formation and defects in angiogenesis. We then provide in vivo evidence showing that Axin1 controls limb development through both canonical β-catenin and BMP signaling pathways. We demonstrate that inhibition of β-catenin or BMP signaling could significantly reverse the FH phenotype in mice. Together, our findings reveal that integration of β-catenin and BMP signaling by Axin1 is required for lower limb development. Defect in Axin1 signaling could lead to the development of FH disease. [ABSTRACT FROM AUTHOR]

Background: Sirenomelia is a condition characterized by the abnormal development of the caudal body of a fetus, with partial or complete lower extremity fusion, also known as Mermaid Syndrome. The anomaly is a serious multisystemic malformation, generally involving the gastrointestinal, genitourinary, cardiovascular and musculoskeletal systems. The exact cause of sirenomelia is unknown, and it is believed that environmental and genetic factors may play a role in the development of this anomaly. The prognosis for sirenomelia is poor, with a median survival of less than a week, and more than half of cases end in stillbirth. Aim: To report a case of sirenomelia treated in our Hospital. Method: This is a case report of a pregnant woman treated at the Gynecology and Obstetrics Service of the Hospital Universitário São Francisco na Providência de Deus - HUSF, located in the city of Bragança Paulista - SP, Brazil. Case Report: 17-year-old patient referred to the Fetal Medicine Service after a morphological ultrasound during pregnancy which demonstrated multiple malformations, including renal agenesis and severe oligohydramnios. The child was born prematurely and with sirenomelia, dying four hours after birth. Analysis of the placenta and umbilical cord revealed abnormalities in the fetus implantation, in addition to a single umbilical artery. Conclusion: Sirenomelia is a rare and fatal congenital anomaly, characterized by fusion of the lower extremities, often associated with additional malformations. Its etiology is poorly understood and possible risk factors include maternal diabetes, exposure to teratogenic drugs, genetic susceptibility, infections and maternal age. Based on the case described, it is suggested that ultrasound is crucial for early diagnosis and decision-making in cases of sirenomelia. Furthermore, raising awareness about preventing teenage pregnancy and controlling blood glucose levels in diabetic pregnant woman are essential to reduce the incidence of the syndrome. [ABSTRACT FROM AUTHOR]

Sirenomelia, also known as mermaid syndrome, is a very rare lethal congenital disorder with multisystem malformations, characterized by fusion of the lower limbs. Here we report a preterm neonate with fusion of the lower limbs. The baby was born by cesarean section to a 27-year-old primigravida mother at 35 weeks and 3 days' gestation. There was no maternal history of hypertension, heart disease, asthma, or diabetes mellitus. At birth, the infant did not cry, had weak tone, a heart rate (HR) of <60 beats per minute (BPM), an Apgar score of 1/2, and a birth weight of 2,300 grams. The infant had an imperforate anus and no urogenital openings or external genitalia. There was a small penis-like protrusion without an aperture, such as in cases of ambiguous genitalia. The two lower limbs were fused, with five toes on each foot. Despite neonatal resuscitation, the infant died within 75 minutes of birth. The child was diagnosed with sirenomelia. This case report aims to emphasize the importance of early prenatal diagnosis and education of the patient's family. [ABSTRACT FROM AUTHOR]

Abstract Sirenomelia is a rare type of dysmelia characterized by partial or complete fusion of the legs. We present a 31-year-old P1+0 who first presented to our antenatal clinic at 17+1 weeks gestational age. An ultrasonographic examination done showed a single foetus with a structurally normal head, chest, and upper limbs. The vertebrae of the lumbosacral spine appeared disorganised. The lower limbs appeared to be fused throughout its length. The ultrasonographic findings were consistent with Sirenomelia-Type 3. Although this condition is likely to have been encountered before in Trinidad and Tobago, this would be the first documented case.

Background: Sirenomelia is a congenital malformation of the lower body characterized by a single midline lower limb and severe urogenital and gastrointestinal malformations. Sirenomelia is rare (estimated incidence of approximately 1/100,000) and usually lethal in the perinatal period. Case: A 2,042 g Japanese male infant, one of monochorionic monoamniotic twins, was born at 34 weeks of gestation by elective caesarean section. Sirenomelia was prenatally diagnosed. Single midline lower limb, bilateral dysplastic kidneys, an omphalomesenteric fistula, colon atresia, imperforate anus, indiscernible genital structures, and myelomeningocele were detected at birth. The amniotic fluid volume was normal throughout the pregnancy course, which led to appropriate lung maturation of the twin with sirenomelia. Although renal replacement therapy was initiated soon after birth, stable peritoneal dialysis was difficult because of the limited intraperitoneal space, and the infant frequently developed peritonitis. He died of sudden cardiorespiratory arrest at 6 months of age. Postmortem examination showed bilateral dysplastic kidneys, agenesis of the ureters and urinary bladder, abnormal branching and agenesis of the distal colon, bilateral inguinal hernias, and small testes. Conclusion: Infants with sirenomelia, even those with end‐stage kidney disease at birth, may survive if they have a stable cardiorespiratory status at birth and renal replacement therapy is appropriately initiated. [ABSTRACT FROM AUTHOR]

The PRECICE® intramedullary rod (NuVasive, San Diego, CA) utilizes multiple telescopic components to magnetically drive limb lengthening. These devices are routinely explanted after desired growth correction is met. To the author's knowledge, this is the first description of an osteotomy assisted extraction of a disassociated tibial magnetic lengthening rod. A 17-year-old girl with fibular hemimelia and resolved left tibial length discrepancy after successful surgical lengthening underwent a complex implant removal approximately seven years after regenerate consolidation. During implant removal, the telescopic portion of the rod remained lodged in the tibial medullary canal and a subsequent unroofing osteotomy of the tibia was performed. Tibial limb length discrepancies are oftentimes corrected with complex implants comprised of multiple fragile components that are routinely explanted. During the unfortunate event of a telescopic intramedullary rod dissociation, an unroofing osteotomy can be successfully performed to removal all implant components. [ABSTRACT FROM AUTHOR]

The skeletal dysplasias are a group of more than 450 heritable disorders that affect bone and cartilage, along with muscles, tendons, and ligaments. Achondroplasia is one of the most common skeletal dysplasias in both current and past populations. It can be transmitted intergenerationally, or it can result from a mutation. This paper aims to describe the lesions visible on the skeleton of a 30–45 year old male with achondroplasia, who lived during the 9th–11th centuries AD (medieval period) in Łekno, Poland. The Łekno settlement complex (Site 3) includes a cemetery with approximately 400 burials of monks and local lay people. Macroscopic examination facilitated a differential diagnosis that identified a probable case of achondroplastic dwarfism, combined with Léri–Weill dyschondrosteosis and ulnar hemimelia. This is the first case of dwarfism in the bioarchaeological literature that had been documented and visualized using 3D modelings, which were used to show quantitative differences in articular surface areas between the achondroplastic individual and contemporaries of normal stature. Ulnar hemimelia is most commonly seen today as a component of skeletal dysplasias. The right ulna of this male was significantly shorter than the right radius and the left ulna. It is probable that he had multiple skeletal dysplasia (achondroplasia, Léri–Weill dyschondrosteosis) as well as ulnar hemimelia as a component of achondroplasia. The combination of these disorders has not been previously reported in the bioarchaeological literature, and this individual is also the first case of achondroplasia and Léri–Weill dyschondrosteosis from the medieval period in Central Europe. As such, this example is used here to provide insights on a variety of different diseases, syndromes, and conditions in Polish medieval populations and that will help in future identification of rare diseases from archaeological sites. [ABSTRACT FROM AUTHOR]

This article analyzes the accuracy of first trimester referral ultrasounds compared to second trimester referral ultrasounds in detecting false positives and false negatives for structural anomalies in singleton pregnancies. The study found that the rate of false positive and false negative diagnoses in the first trimester ultrasounds was low. False negatives were mostly minor structural anomalies with little impact on management and counseling, or evolving anomalies that cannot be diagnosed in the first trimester. False positives were consistent with the natural history of the anomaly, although over-diagnosis was acknowledged as a limitation of first trimester referral ultrasounds. [Extracted from the article]

This article, titled "EP07.80: Rare case of sirenomelia: an unborn and unfortunate mermaid," discusses a rare and usually lethal congenital anomaly known as sirenomelia or "mermaid syndrome." The case study presented in the article involves a 25-year-old pregnant woman who underwent a routine anomaly scan at 19 weeks of gestation. The prenatal ultrasound was the primary method used to diagnose sirenomelia, which was accompanied by other anomalies such as multicystic dysplastic kidney, sacrococcygeal agenesis, lateral abdominal wall defect, and anal atresia. The article highlights the challenges associated with diagnosing and managing sirenomelia, as well as the importance of prenatal imaging in detecting the condition early and improving outcomes. [Extracted from the article]

This article discusses a rare congenital anomaly called sirenomelia, which is characterized by the fusion of the lower limbs and is often accompanied by abnormalities in the urinary and digestive systems. The authors present a case of sirenomelia diagnosed in the second trimester of pregnancy and discuss the criteria for ultrasound diagnosis of this condition. They emphasize the importance of early recognition and diagnosis in order to provide appropriate management and counseling for affected pregnancies. The article provides valuable information for researchers and healthcare professionals studying fetal malformations. [Extracted from the article]

This article discusses a case report of a fetus with Currarino syndrome, a rare hereditary disease caused by a mutation in the MNX1 gene. The fetus showed a suspicious sacral defect and a possible low conus medullaris position on prenatal ultrasound. The main symptoms of Currarino syndrome include a sacrococcygeal defect, sacral anterior mass, and anorectal malformation. It is important to differentiate Currarino syndrome from other conditions such as caudal regression syndrome and sirenomelia sequence. The article highlights that sacrococcygeal defect and low conus medullaris position are important clues for identifying Currarino syndrome. [Extracted from the article]

Thrombocytopenia-absent radius (TAR) syndrome is a rare congenital syndrome in which thrombocytopenia and the absence of radius can be accompanied by various organ anomalies. Bilateral phocomelia is the most severe form in this clinic. Thumbs are always present. The deletion of the RNA-binding motif protein 8A (RBM8A) gene on chromosome 1q21.1 in Array Comparative Genomic Hybridization confirms the diagnosis of TAR syndrome. Thrombocytopenia, which can cause complications, tends to resolve in the first year of life. Although there are delays in motor development, mental retardation is not one of the common clinical findings of this syndrome. In the differential diagnosis of severe radial defects, TAR syndrome, Holt-Oram syndrome, Roberts syndrome, Fanconi anemia, and VACTERL association are included. The presence of key findings of each syndrome is important in the differential diagnosis. Here, we aimed to evaluate the approach to the differential diagnosis of severe radial anomalies in a patient with TAR syndrome and neuromotor retardation. [ABSTRACT FROM AUTHOR]

The mermaid syndrome, also known as sirenomelia, is considered an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and lower limbs. Affected babies are born with partial or total leg fusion. Sirenomelia is thought to affect one in every 60,000 to 100,000 infants. We report a case of sirenomelia occurring in a 28-year-old multiparous woman, a heavy smoker with gestational diabetes. In the other 5 pregnancies, however, she gave birth to normal babies. The post mortem examination completed the diagnosis, revealing also multiple malformations of several systems: respiratory, gastro-intestinal, genito-urinary and cardiovascular. In our full term neonate case with grade VI sirenomelia, the presence of a single umbilical artery plus the abdominal aorta with an aberrant trajectory that ends in the umbilical cord differentiates this condition from caudal regression syndrome and also explains the under-development of pelvic organs (secondary to vascular steal phenomena). [ABSTRACT FROM AUTHOR]

We herein report on the application of a novel motorized prosthetic hand in a child with upper extremity phocomelia. [ABSTRACT FROM AUTHOR]

Background: Roberts syndrome is a genetic disorder characterized by tetra-phocomelia with abnormalities of ESCO2. We report a male stillborn with tetra-phocomelia and no ESCO2 mutation. Case report: Pre- and post-natal imaging and autopsy findings included schizencephaly, phocomelia of four limbs, micrognathia, oligodactyly, and cardiopulmonary malformations. Microcephaly on pre-natal imaging was not confirmed by autopsy examination. Karyotype, prenatal chromosome microarray and ESCO2 gene testing were normal. Conclusion: Given the various skeletal anomalies found on autopsy and imaging evaluations, at least phenotypically, our case appeared to conform into Roberts syndrome spectrum. Since the infant did not have the mutation associated with this disorder, this infant could be labeled as the first report of a pseudo-Roberts syndrome because many of his phenotypic anomalies are characteristic of Roberts syndrome in absence of the ESCO2 gene mutation. [ABSTRACT FROM AUTHOR]

Temesgen Tilahun,1 Dawit Desta2 1Department of Obstetrics & Gynecology, Institute of Health Sciences, Wollega University, Nekemte, Ethiopia; 2Department of Emergency Surgery, Gynecology, and Obstetrics, Arjo Hospital, Arjo, EthiopiaCorrespondence: Temesgen TilahunDepartment of Obstetrics & Gynecology, Institute of Health Sciences, Wollega University, P.O Box: 395, Nekemte Oromia Ethiopia, Central, Addis Ababa, Nekemte, EthiopiaTel +251912057186Email ttamuko@yahoo.comBackground: 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.Keywords: sirenomelia, twin pregnancy, expectant management

Abstract Background Sirenomelia, 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 presentation We 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. Conclusion This report suggests the existence of a genetic background in this mother with a Mendelian inheritance pattern of 50% second-generation incidence in her offspring.

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.

Differently-disabled people having the disorders like paralysis, limb deficiency Amelia, or amputee. Various work was done on detecting and tracking the differently-abled people for the perception of people and their mobility aids. Different combination of Fast R–CNN and Faster R–CNN with Red Green and Blue or Depth (RGB or RGB-D) camera were used. There are several state-of-the-art deep learning models e. g. Yolo and its different variants that detect and track perception of people. This research uses detection and tracking the differently-abled people with paralysis, limb deficiency Amelia, or amputee. The research purposed Yolov5 (You Only Look Once, Version 5) model of deep learning with a camera to detect and track the differently-abled people in real-time having the disorders. A Ubiquitous system for the detection of differently-abled people using deep Learning based YOLO (You Only Look Once) models could be a powerful and inclusive application of technology. This research is concerned with the RGB images dataset that has seventeen thousand and seventy-nine PNG files with fifteen thousand two hundred and seventy-eight YML annotation files. This data has five classes such as pedestrian, person in wheelchair, person pushing a person in a wheelchair, person using crutches, and person using a walking frame. From overall simulation result it shows that Yolov3 perform better than Yolov5 which detect differently-abled people with P of 0.915, R of value 0.919, and mAP@.5 of 0.951. While Yolov5 has detect differently-abled people with P of 0.885, R of value 0.887, and mAP@.5 of 0.942. • A model for detecting and tracking of the differently-abled people is presented disrupting machine learning models. • Yolov3 and Yolov5 deep learning model for the detection and tracking of the differently-abled people is proposed. • The work is compared with the recent models in terms of loss, accuracy, precision, recall, f-measure, and PR curve. [ABSTRACT FROM AUTHOR]

Sirenomelia is an extremely uncommon congenital deformity in which neonate has fused lower limbs associated with various visceral malformations including urogenital and gastrointestinal tract, pulmonary hypoplasia, and potter's facies. The prevalence is 0.8 to 1 per 100,000 newborns. About 300 cases were recorded till date. We describe a case of 31-year G4P1L1A2 with previous lower segment caesarean section with gestational age of 22 weeks 5 days with anomaly scan suggestive of single live intrauterine pregnancy of 21 weeks 5 days with bilateral renal agenesis with placenta previa and no demonstrable amniotic fluid pocket seen. Her pregnancy was uneventful without any medical disorder, drug history, and no congenital anomaly in the family. Termination of pregnancy done by emergency hysterotomy and delivered anomalous foetus with fused lower limb with absent toes, low set ears, absent left ear ostium, imperforate anus, and absent external genitalia. Sirenomelia is fatal congenital anomaly with unclear etiology. Early antenatal diagnosis and termination of pregnancy is the treatment.