Bilateral Talipes Research Articles

Meningocele manqué. Case report of a rare disorder

A case of meningocele manqué with its management is presented and the literature of this rarely reported condition is reviewed. A one-year-old child was admitted with a small sac like lesion in the upper dorsal region with a soft swelling in the dorso lumbar region, was also associated with congenital bilateral talipes equinovarus which was being treated by a paediatric orthopedic surgeon. Methods. Craniospinal MRI was suggestive of dorso lumbar lipomyelomeningocele, and corresponding to the dorsal sinus/sac at DV3/DV4 level there was another tethering seen on the MRI due to a band and associated with syrinx of the dorsal cord below that, s/o meningocele manqué. Treatment. This patient underwent in 1st stage, DV2 to DV5 laminoplasty, excision of the sinus, durotomy, dissection of the multiple arachnoid cysts, and cutting of the dorsal band. In second stage will undergo surgery for Lipomyelomeningocele Conclusion: Meningocele Manque is rare, it can present in isolation or associated with other spinal dysraphism. With other spinal dysraphism they can be either at the same or at another location, as was seen in our case. Before operating all cases of spinal dysraphism it is of paramount importance to MRI screen the entire neuraxis and study images thoroughly. In our case along with the dorso lumbar lipomyelomeningocele, there was a Meningocele manqué at DV3/DV4 level. It is essential that the meningocele manqué be addressed first; if not the returning/recoiling cord after de-tethering at the lower level can get tugged/sheared at the tethered meningocele manqué causing deficits.

Campomelic dysplasia: a case report

Campomelic dysplasia is a rare, lethal, and autosomal dominant inherited disorder with reversal of sex in genotypic male in two third cases. An eight-month-old phenotypic female infant was admitted with respiratory distress and failure to thrive. She had facial dysmorphism, cleft in soft palate, pectus excavatum deformity, bowing of lower limbs, dimpling at right knee area and bilateral congenital talipes equinovarus deformity. Radiographs shows 11 pairs of ribs, hypoplastic scapula, bowing of bilateral tibia and hypoplastic bilateral fibula. Karyotyping was 46XYchromosome and whole exome sequencing reveals autosomal dominant affecting SOX9 (NM_000346.4) gene, pathogenic variant of c.583C>T (p.Gin195Ter) which is stop gained variant. She was managed according to hospital protocol and discharged. Prenatal diagnosis, genetic counselling and multidisciplinary approach for management of survival cases is important to reduce mortality.

Hereditary sensory autonomic neuropathy type VI in the age of genetic testing

AbstractBackgroundHereditary sensory and autonomic neuropathy type VI (HSAN VI) is a rare recessive genetic disorder caused by mutations in the human dystonin (DST) gene. We report a novel homozygous alternate transcript mutation in the DST gene causing a severe neonatal form of HSAN VI.Patient DescriptionThis baby boy was born with severe hypotonia, respiratory distress, dysmorphic features, and bilateral club feet. Imaging, karyotyping, Prader–Willi assay, spinal muscular atrophy genetic panel and myotonic dystrophy genetic panel were all negative. A comprehensive neuropathy panel detected a homozygous pathogenic variant in the DST gene—alternate transcript NM_015546.4:c.1357G>A (p.Trp4525*). Nerve conduction studies revealed mixed axonal and demyelinating sensorimotor neuropathy, suggesting the possibility of motor involvement in severe forms of this rare condition. The infant ultimately developed sepsis and died from cardiorespiratory arrest. Neuropathological findings of focal and mild spinal nerve axonal degeneration were nonspecific.ConclusionCollective analysis of these patients would help to further characterize the spectrum of disease pathology and could provide insight into the neurophysiology and neuropathology of this rare condition.

Prevalence and pattern of congenital clubfoot among less than 5-year-old children in Ethiopia; cross-sectional based study

BackgroundClubfoot is one of the most common congenital malformations, but it is also one of the most neglected public health problems among less than five-year-old children, mainly in middle- and low-income countries. Approximately 80% of clubfoot cases are found in low- and middle-income countries. In this study setting, no epidemiological studies have been conducted to assess clubfoot deformity. Due to this gap, the study aimed to assess prevalence, and pattern of congenital club foot among less than 5-year-old children.Materials and methodsAn institutional-based cross-sectional study was carried out at Black Lion Specialized Hospital at the pediatric orthopedic clinic. The sample size was 261 to determine the prevalence and pattern of congenital clubfoot. Terms like frequency, percentage, and mean were used for data presentation.ResultA total of 36,303 pediatric patients visited Black Lion Specialized Hospital during the study period, and clubfoot prevalence was 7.2 per 1000. The largest subclassification of congenital clubfoot was idiopathic clubfoot, which accounted for 6.2 per 1000, whereas syndromic clubfoot was 0.3 per 1000, and neuropathic clubfoot was shared at 0.36 per 1000. Most of the cases in this study were bilateral clubfoot, with males having more dominance.ConclusionIn the area under investigation, a significant prevalence of congenital clubfoot was observed, especially among male children. The majority of cases were bilateral, with idiopathic clubfoot being the dominant form.

Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.

Distal arthrogryposis (DA) is a skeletal muscle disorder that is characterized by the presence of joint contractures in various parts of the body, particularly in the distal extremities. In this study, after a systematic review of the literature, we present a case report of a non-consanguineous family. In our case, the first-trimester ultrasound was negative, and the presence of the affected mother was not enough for the parents to consent to us performing invasive amniotic fluid sampling. The second-trimester ultrasound showed clear abnormalities suggestive of arthrogryposis. Whole-exome sequencing was performed and an autosomal dominantly inherited disease-associated gene was identified. In our case, a pathogenic variant in the TNNT3 gene c.188G>A, p.Arg63His variant was identified. The mother, who had bilateral clubfoot and hand involvement in childhood, carried the same variant. The TNNT3 gene is associated with distal arthrogryposis type 2B2, which is characterized by congenital contractures of the distal limb joints and facial dysmorphism. In the ultrasound, prominent clubfoot was identified, and the mother, who also carried the same mutation, had undergone surgeries to correct the clubfoot, but facial dysmorphism was not detected. Our study highlights the importance of proper genetic counseling, especially in an affected parent(s), and close follow-up during pregnancy.

Initial clubfoot treatment in Sweden from 2016 to 2019: A national register study.

This study aimed to describe the initial treatment of clubfoot deformity in Sweden using a national cohort. Secondarily we aimed to analyse the results of the initial treatment in relation to foot severity and additional diseases. A national register, the Swedish Pediatric Orthopedic Quality Register, was used to extract data on children born with clubfoot in 2016-2019. Children with a registered evaluation after initial treatment were included. Data on deformity severity (Pirani score), casting treatment, and achillotenotomy were extracted. For children with bilateral clubfeet, one foot was included in the analysis. A total of 565 children were included in the analysis. Of these, 73% were boys and 47% had bilateral clubfeet. Children with isolated clubfoot required a median of six casts to correct the deformity, while children with non-isolated clubfoot needed a median of eight casts. Seventy-seven percent underwent an achillotenotomy. Residual deformities of 0.5 or above (often soft-tissue issues) according to the Pirani score were noted in 23% (isolated clubfoot) and 61% (non-isolated clubfoot) after initial treatment. We have described the initial clubfoot treatment of children born with isolated or non-isolated clubfoot in Sweden based on data from a national register. The initial treatment was performed to a large extent according to the Ponseti method and international recommendations. Moreover, we discuss the usefulness of the Pirani score in classifying clubfoot deformity after treatment.

Assessing the Influence of Age, Weight, and Pirani Score on the Number of Casts During the Initial Phase of Clubfoot Treatment Using the Ponseti Method: A Prospective Study.

Clubfoot, also known as congenital talipes equinovarus is a prevalent childhood ailment that, if untreated, can lead to long-term discomfort and impairment. The Ponseti technique, aimed at achieving corrected foot positioning, is widely accepted. This study investigated the influence of clubfoot severity (Pirani score), patient age, and initial manipulation and casting weight on the overall number of casts needed for effective treatment. A prospective study was carried out involving 40 idiopathic clubfoot patients where manipulation and casting were performed following the Ponseti method. Patient age, weight, and foot Pirani score were evaluated concerning the total number of casts needed to achieve 70° of abduction. The majority of participants were male infants aged 4-6months, with a median age of 4.5months. Half of them weighed between 3.00 and 4.99kg at their first hospital visit, with a median weight of 3.20kg. Bilateral clubfoot involvement was common (57.5%). Children with Pirani HFCS 2.0-3 often required percutaneous tenotomy (87.5%, p value 0.05). On average, patients needed 5 casts (range 3-9). The mean total Pirani scores were 4.71 for the right foot and 4.61 for the left foot. The study reported a positive correlation between higher total Pirani scores and the required number of casts. The Pirani scoring system is highly accurate in assessing clubfoot severity and predicting treatment success. It emerged as the single most significant predictor for both the total number of casts and the need for percutaneous tenotomy.

Duration and outcome of orthotic treatment in children with clubfoot – a four-year follow-up national register study of Swedish children born between 2015 and 2017

BackgroundThe Ponseti method for treating clubfoot consists of initial treatment with serial casting accompanied by achillotenotomy if needed, followed by the maintenance phase including treatment with a foot abduction orthosis (FAO) for at least four years. This study aimed to examine the duration, course, and outcome of orthotic treatment in children with clubfoot.Methods321 children with clubfoot, born between 2015 and 2017, registered in the Swedish Pediatric Orthopedic Quality Register (SPOQ), were included in this prospective cohort study. Data on deformity characteristics and orthotic treatment were extracted. For children with bilateral clubfoot, one foot was included in the analysis.ResultsOf the 288 children with isolated clubfoot, 274 children (95.5%) were prescribed an FAO, and 100 children (35%) changed orthosis type before 4 years of age. Of the 33 children with non-isolated clubfoot, 25 children (76%) were prescribed an FAO, and 21 children (64%) changed orthosis type before 4 years of age. 220 children with isolated clubfoot (76%), and 28 children with non-isolated clubfoot (84%) continued orthotic treatment until 4 years of age or longer. Among children with isolated clubfoot, children ending orthotic treatment before 4 years of age (n = 63) had lower Pirani scores at birth compared to children ending orthotic treatment at/after 4 years of age (n = 219) (p = 0.01). It was more common to change orthosis type among children ending orthotic treatment before 4 years of age (p = 0.031).ConclusionsThe majority of children with clubfoot in Sweden are treated with an FAO during the maintenance phase. The proportion of children changing orthosis type was significantly greater and the Pirani score at diagnosis was lower significantly among children ending orthotic treatment before 4 years of age. Long-term follow-up studies are warranted to fully understand how to optimize, and individualize, orthotic treatment with respect to foot involvement and severity of deformity.Level of evidenceII.

MULTIFOCAL ATRIAL TACHYCARDIA AND HYPERTROPHIC CARDIOMYOPATHY IN THREE PATIENTS WITH COSTELLO SYNDROME

Abstract Introduction Costello syndrome is a rare disease, caused by mutation of the HRAS gene, associated with intellectual disability, growth retardation, facial dimorphisms. Cardiac abnormalities, mainly cardiac hypertrophy and multifocal atrial tachycardia, are present in 1/3 of patients. Clinical Cases From 2019 to 2023, 3 newborns with Costello syndrome came under our observation. M.M. showed respiratory distress, hypotonia and dysmorphic notes; genetic analysis highlighted the pathogenic variant c.64C>A (p.Gln22Lys). On the echocardiogram, septal hypertrophic cardiomyopathy was found with left outflow obstruction and mitral insufficiency. Therapy with propranolol was undertaken. Holter ECG never revealed arrhythmias. At the last check–up, SIV hypertrophy, continent mitral valve, free left ventricular outflow. The second patient, O.L., arrived at 10 days of age following a run of supraventricular tachycardia. He had bilateral clubfoot and facial dimorphisms. The echocardiogram was normal. On Holter ECG atrial tachycardia interrupted by rare sinus beats. Therapy with flecainide was undertaken, without benefit. Subsequently, was undertaken amiodarone, then associated with digitalis. She was discharged with satisfactory control of the average ventricular rate, but later due to the appearance of chaotic atrial arrhythmia, propranolol was added; on the Holter ECG in triple therapy, periods of sinus rhythm alternating with short episodes of atrial tachycardia were observed. Genetic analysis revealed the pathogenic variant c.34G>A, p.(Gly12Ser) of the HRAS gene. The third patient, F.A., presented atrial tachycardia. Flecainide therapy had transient benefit. Subsequently propranolol was added, without benefit. Therapy with amiodarone was initiated. Transesophageal electrophysiological study demonstrated multifocal atrial tachycardia, unresponsive to overdrive pacing. Partial control of the average ventricular rate was achieved in triple therapy. On the echocardiogram, mild concentric hypertrophy and dysplastic pulmonary valve. Genetic testing detected the c.35G>C, p(Gly12Ala) variant of the HRAS gene. Conclusions Costello syndrome requires cardiac monitoring for the possible presence of multifocal atrial tachycardia and hypertrophic cardiomyopathy. Arrhythmia, which can also occur independently of hypertrophy, can be self–limited in the first months of life with aggressive pharmacological treatment but can persist or worsen in ¼ of patients.

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature

Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron. The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus, overlapping toes, and severe bilateral hydronephrosis accompanied by congenital heart disease, consistent with canonical SGS. This is the first report of a typical SGS caused by a, SETBP1 non-degron missense variant. This case expands the genetic spectrum of SGS and provides new insights into genotype-phenotype correlations.

Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3

BackgroundBiallelic pathogenic variants in PIP5K1C (MIM #606,102) lead to lethal congenital contractural syndrome 3 (LCCS3, MIM #611,369), a rare autosomal recessive genetic disorder characterized by small gestational age, severe multiple joint contractures and muscle atrophy, early death due to respiratory failure. Currently, 5 individuals with LCCS3 were reported and 5 pathogenic variants in PIP5K1C were identified. Here, we reported the two fetuses in a Chinese pedigree who displayed multiple joint contractures and other congenital anomalies.MethodsTrio-based whole-exome sequencing (WES) was performed for the parents and the recent fetus to detect the genetic cause for fetus phenotype.ResultsA novel variant, NM_012398.3: c.949_952dup, p.S318Ifs*28 and a previously reported variant, c.688_689del, p.G230Qfs*114 (ClinVar database) in PIP5K1C, were detected in the individuals, and these variants were inherited from the mother and father, respectively. We described the features of multiple joint contractures in our fetuses, including bilateral talipes equinovarus, stiffness in the limbs, extended knees, persistently closed hands and overlapping fingers, which have not been delineated detailedly in previously reported LCCS3 individuals. Furthermore, novel phenotype, bilateral dilated lateral ventricles, was revealed in one fetus.ConclusionsThese findings expanded the genetic variant spectrum of PIP5K1C and enriched the clinical features of LCCS3, which will help with the prenatal diagnosis and genetic counseling for this family.

Case report of congenital myotonic dystrophy with multiple prenatal sonographic findings

Abstract Objectives Myotonic dystrophy 1 (DM1) is an autosomal dominant inherited neuromuscular disorder. The most severe form is congenital myotonic dystrophy (cDM). Prenatal diagnosis is complicated and sonographic findings of cDM that are not pathognomonic occur in the late second or early third trimester of pregnancy. Case presentation It is the case of prenatally diagnosed cDM. In 32 weeks of pregnancy multiple sonographic findings such as severe polyhydramnios, bilateral talipes, fetal legs akinesia, macrocephaly with mild bilateral ventriculomegaly, right-sided pleural effusion and diaphragmatic pathology were observed by fetal medicine specialist. As the patient complained of weakness in her limbs, she was consulted by a neurologist. The neurological examination revealed a pathognomonic sign of DM1 – grip myotonia. The amniotic fluid and the mother’s blood sample were further tested for DM1. This identified >150 repeats in one copy of the DMPK gene of the both, which is consistent with the diagnosis DM1. Conclusions The sonographic findings of fetal limb abnormalities with progressive polyhydramnios is an indication for maternal neurological examination and genetic testing due to myotonic dystrophy.

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.

α-mannosidosis (MAN) is a rare genetic condition that segregates in an autosomal recessive manner. Lack of lysosomal alpha-mannosidase is the underlying cause of the disease. Symptoms of the disease gradually worsen with the age. Newborns are usually asymptomatic, however, some cases are reported with either congenital ankle equinus or hydrocephalus during the first year. Primary symptoms are characterized by immune deficiency, hearing loss, skeletal abnormalities, progressive mental, motor and speech functions' impairment followed by facial asymmetry. We studied two Saudi families (A and B) with bilateral moderate hearing loss (family A) and clubfoot with glaucoma (family B). Clinical diagnosis was not reached based on phenotype of patients. Therefore, hypothesis-free whole exome sequencing (WES) was performed on DNA samples from affected individuals of both the families, followed by Sanger sequencing and segregation analysis to validate the segregation of the identified variant. Furthermore, 3D protein modelling was performed to determine the in silico effects of the identified variant on the protein structure and function. Re-examination of clinical features revealed that the patients in family A have speech delay and hearing impairment along with craniostenosis, whereas the patients from family B have only clubfoot and glaucoma. WES identified a well known pathogenic homozygous frameshift variant (NM_000528.4: c.2402dupG; p.S802fs*129) in MAN2B1 in both the families. Sanger sequencing confirmed the segregation of the variant with the disease phenotype in both the families. 3D structural modeling of the MAN2B1 protein revealed significant changes in the tertiary structure of the mutant protein, which would affect enzyme function. This report presents a new case where partial and novel α-mannosidosis phenotypes are associated with a MAN2B1 gene pathogenic variant. Patients in both the families have manifested peculiar set of clinical symptoms associated with α-mannosidosis. Family A manifested partial clinical symptoms missing several characteristic features like intellectual disability, dysmorphic features, neurological and abdominal manifestations, whereas family B has no reported clinical symptoms related to α-mannosidosis except the novel symptoms including club foot and glaucoma which has never been reported earlier The current findings support the evidence that biallelic variants of MAN2B1 are associated with new clinical variants of α-mannosidosis.

A novel STAG1 variant associated with congenital clubfoot and microphthalmia: A case report

The cohesin protein complex plays a vital role in various cellular processes such as sister chromatid cohesion, chromosome condensation, DNA repair, and transcriptional regulation. It is constituted by SMC1, SMC3, RAD21, STAG1/STAG2 subunits, and several regulatory proteins. Pathogenic variants in these components cause cohesinopathies, with common clinical features including facial dysmorphism, delayed growth, developmental delay, and limb anomalies. Pathogenic variants in the STAG1 contribute to an emerging syndromic developmental disorder with only 21 reported cases in the literature. We describe a 3-year-old girl presenting with congenital bilateral clubfoot and unilateral microphthalmia—clinical manifestations not previously reported in the literature. Whole exome sequencing revealed a novel de novo nonsense variant (c.1183C>T, p.(Arg395*)) in the STAG1, expanding the clinical and molecular spectrum of STAG1-related cohesinopathy. This patient’s unique phenotype highlights the clinical diversity within cohesinopathies, emphasizing their relevance in cases of developmental delay and dysmorphic features. Further studies, including genotype–phenotype correlation analyses and functional investigations, are essential for enhancing our understanding of STAG1-related cohesinopathy.

Retraction Note: Pain behavior of children with bilateral idiopathic clubfoot undergoing Ponseti casting and the effect of non-pharmaceutical pain-relieving agents.

Retraction Note: Pain behavior of children with bilateral idiopathic clubfoot undergoing Ponseti casting and the effect of non-pharmaceutical pain-relieving agents.

Sacral agenesis without maternal diabetes: a case report.

Sacral agenesis is a rare congenital condition that is characterized by sacrococcygeal bone agenesis. It is associated with spinal cord anomalies as well as problems with the genitourinary system, large bowel, and lower extremities. Fetal ultrasound allows for diagnosis even before birth. The authors present the case of a 1-year-old girl with sacral agenesis type III and bilateral congenital talipes equinovarus with spina bifida who was born to a nondiabetic mother and had a normal anomaly scan. People with less severe forms of sacral agenesis can live a normal life, and it is not connected with cognitive impairment; however, concomitant bladder, colon, and lower limb disorders cause considerable morbidity. The majority of treatment is supportive, frequently requiring orthopedic, urological, gastroenterological, pediatric, and physiotherapy support. Genetic and prepregnancy counseling, as well as early screening of high-risk mothers, remain the only options for prevention of the disease since treatment is mostly supportive.

Frequency and Patterns of Congenital Talipes Equinovarus (Clubfoot) Deformity in Children

Background: Clubfoot, also known as congenital talipes equinovarus (CTEV), is a structural deformity that appears early in pregnancy. Objective: To determine the frequency and patterns of congenital talipes equinovarus (clubfoot) deformity in children. Study Design: Cross sectional study. Settings: Department of Anatomy Dow International Medical College, DUHS Karachi Pakistan. Duration: October 2022 to March 2023. Methods: We initiated a prospective study that aimed to investigate congenital anomalies among neonates. We systematically documented the patterns of clubfoot concerning factors such as gender, the affected side, any coexisting congenital anomalies and maternal demographic details as part of our comprehensive analysis. Results: The number of children with clubfoot deformity recorded during the study period was 125 out of total number of all births at hospital during this period. This gave an estimated clubfoot incidence of 1 in 500 per number of births or 2 per 1000 births. Most patients were infants, with 50.4% aged less than 6 months, while 27.2% were between 6 months and 1 year old, and 22.4% were over 1 year old. Gender distribution showed that 56% were male, and 44% were female. Among the patients, 40% had CTEV on the right side, 20% on the left, and an equal number, 40%, had it bilaterally. The majority, 96%, had isolated CTEV, while a smaller percentage, 4%, had CTEV associated with other medical conditions. Conclusion: The occurrence of clubfoot is higher in males than in females. An equal number of cases presented with bilateral and unilateral clubfoot. Notably, the mode of delivery and a positive family history were found to have significant associations with clubfoot. These initial findings are expected to contribute to future studies in both central India and the broader Pakistani population that focus on similar issues.

Bilateral congenital idiopathic clubfoot treatment with the Ponseti technique in Umuahia: A comparison of individual foot characteristics

Background: Clubfoot is the commonest musculoskeletal congenital deformity affecting the foot. The idiopathic variety is the most common type and worldwide the agreed treatment method is the Ponseti method. In bilateral cases, the feet may have different anthropometric characteristics. These differences were evaluated in this study.Objective: To assess the effect of the differences in the anthropometric parameters of the legs and feet (Calf circumference, foot length, degrees of cavus, adduction and equinus and Pirani score) in a child with bilateral clubfoot on the treatment outcome and recurrence of the deformity.Method: This was a prospective study that analyzed idiopathic bilateral clubfoot patients aged 0-5 years and treated using the Ponseti Technique at Federal Medical Center, Umuahia from October 2019 to September 2020. The Pirani scores, the lengths of the feet, the calf circumferences and degrees of cavus, adduction and equinus were measured at initial presentation, commencement of bracing and 3 months after commencement of treatment. These measurements were then compared.Results: A total of 47 patients participated in the study with a male preponderance. The right calf circumference and length of the right foot were consistently bigger than the left at each measurement; and these differences were statistically significant. The degrees of cavus, adduction and equinus were significantly worse on the right foot at presentation. Thirty-six patients (76.6%) had the same Pirani score on both feet at presentation. The differences in anthropometry parameters did not predict the number of casts needed to correct the deformity, the need for tenotomy nor the recurrence of the deformity.Conclusion: Although there were differences in the lower limb anthropometry of children with bilateral clubfoot, they did not predict deformity correction nor recurrence.

HOW EFFECTIVE IS STEENBEEKS BRACE IN MAINTAINING CORRECTION IN CLUBFOOT AFTER PONSETI TREATMENT

Background: The term clubfoot refers to a variety of related congenital foot deformities. It is used interchangeably to refer to clubfoot deformities that are idiopathic, atypical, syndrome, and postural. Scales designed specifically for clubfoot, like the Pirani and Dimeglio Scales, are frequently used to categorize severity. Therefore, this study is aimed to evaluate the effectiveness of Steenbeek Foot abduction brace (SFAB) to maintain the correction achieved. Methodology: A Cross-sectional study conducted at CTEV Clinic, Department of Orthopaedic, NSCB Medical College, Jabalpur from the period of 1st Jan 2021 to 31st June 2022 with a sample size of 50 estimated through n = z2pq / d2. Study participants include Child age- <=1.5 years and Unilateral / Bilateral Idiopathic Club Foot. Statistical analysis was done through IBM Software SPSS 21.0 and association was found with confidence Interval of 95% and p-value<0.05. Results: Current study concluded that maximum are males (54%) with an age-group of <6 months (64%) presented Bilateral CTEV (60%). Furthermore, treatment effectiveness was highest in number with the significant association between treatment effective and sex (p-value<0.05). Meanwhile, relapse was found in females comparatively to males with no statistically association (p-value>0.05). Conclusion: The desired goal of achieving minimal disability as a result of clubfoot can be assisted in its achievement by enhancing the education and counselling of parents, removing social barriers, strengthening the training of health providers, improving access to affordable braces, and eliminating social barriers.

“Confounding Contractures” A Non-Lethal Presentation of a Lethal Disorder (P11-9.010)

<h3>Objective:</h3> N/A <h3>Background:</h3> The arthrogryposes are a group of non-progressive conditions characterised by multiple joint contractures at birth. They are a heterogenous group of disorders with multiple neurogenic, myopathic and connective tissue aetiologies. The Lethal Congenital Contracture Syndromes (LCCS) are a rare cause of arthrogryposis and are associated with significant perinatal pulmonary abnormalities such as pulmonary hypolasia and high mortality in the neonatal period. <h3>Design/Methods:</h3> We report the case of a 25 year old female who presented at birth with multiple lower limb contractures, bilateral talipes and hip fractures/dislocations. There was no evidence of any cardiorespiratory compromise in the neonatal period. The patient’s early life was dominated by extensive orthopaedic interventions for lower limb contractures and scoliosis, but she had an otherwise unremarkable development with no evidence of cardiac or pulmonary complications and no evidence of intellectual disability. There was a history of an early neonatal death in a brother with a similar phenotype, however no underlying cause was established. Examination demonstrated areflexia but no discernible weakness. <h3>Results:</h3> A muscle biopsy at 3 months showed non-specific myopathic features, but was normal on repeat biopsy aged 21. EMG showed subtle chronic myopathic features. Targeted genetic analysis with congenital myopathy and arthrogryposis panel was unrevealing. Proceeding to whole exome sequencing revealed a homozygous pathogenic variant in the GLDN gene, confirming the diagnosis of Lethal Congenital Contracture Syndrome type 11. <h3>Conclusions:</h3> Despite the diagnosis, which is commonly fatal in the neonatal period, the patient has survived well into adulthood and functioning at a high level independently with no evidence of any pulmonary complications. This highlights a previously unreported case of an adult patient with LCCS 11 without evidence of respiratory compromise, while also highlighting the value of broad genetic testing in this cohort. <b>Disclosure:</b> Dr. Mullane has nothing to disclose. Dr. Donlon has nothing to disclose. Dr. Smyth has nothing to disclose.