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We report on a 39-week-old male neonate diagnosed on antenatal sonography with bilateral congenital talipes equinovarus deformity and postnatally confirmed to be having global hypotonia with decreased sensation to touch and pain. The mother is postnatally diagnosed to be having gestational diabetes. On the evaluation of the neonate, he has profound axial and appendicular hypotonia, with absent deep tendon reflexes and negligible power. The neonate has poor oromotor tone and myopathic facies, with intact sensorium and no seizures. Blood investigations including serum lactate dehydrogenase, serum lactate, and serum creatinine phosphokinase are normal. Neuroimaging including ultrasonography and magnetic resonance imaging of the brain is normal. Electroencephalogram is also normal. Whole-exome sequencing reveals a novel mutation of the PIEZO2 gene. Neonate is currently on early intervention and continues to be hypotonic at 5- month follow-up. We discuss in this manuscript this rare cause of peripheral neuropathy, its management, and prognosis. [ABSTRACT FROM AUTHOR]

Abstract Background Clubfoot 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 methods An 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. Result A 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. Conclusion In 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.

objective: To describe the epidemiological and clinical patterns of congenital foot anomalies seen in one hospital in Côte d'Ivoire. Patients and Methods: This was a retrospective hospital-based study of all children aged 15 years and below who were scene with congenital foot anomalies from January 1, 2000 to December 31, 2006, at the paediatric surgery department of Yopougon teaching hospital in Abidjan, Cote d'Ivoire. Their charts were reviewed for material obstetrical history putionts 2 demographic and biometric neonatal data, time intervals before for diagnosis, clinical and radiographic presentations, treatment undertaken and outcome. Results: A total of 466 congenital foot anomalies (CFA) in 330 patients were identified among 1.490 congenital disorders in a period when the number of live births was 235,161. This is resulted in a rate of 1.98 CFA per 1,000 live births The age at diagnosis ranged from way five years with a peak incidence at four years. The live most common of 11 patterns of congenital foot anomalies seen, were clubfeet in 205 144.2 percent) cases, flat feet (16,7 percent) in 78, metamsus warus (14.2 percent) in 66, equine foot (11.8 percent) in 55 and slope feet (4.9 percent) in 23. Bilateral involvement occurred in 126 patients (38.2 percent), while umbilical hernia was the most frequently associated anomaly (64.8 percent). Clubfeet were lilateral in 112 cases (54 percent), while Dimeglio grades I and II, were predominant (74.3 pervect). Treatment consisted of serial plasters for 180 patients (38.6 percent) which were combined with physiotherapy fluid surgical reduction in 143 (30.7 percent) and 25 cases (5.4 percent), respectively. Conclusion: Congenital foot anomalies were frequent and their clinical expression was classical in our study

Background: Clubfoot 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 methods: An 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. Result: A 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. Conclusion: In 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. [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]

Background: The Ponseti technique remains the preferred method for club foot treatment. Although measures of treatment outcomes have been well documented, there is no consensus on the determinants of those outcomes. This study aims to assess treatment outcomes and the factors which can influence treatment outcomes. Materials and Methods: This is a cross-sectional study. A total of 472 children representing 748 feet in total were recruited. Patient characteristics such as age at presentation, gender, tenotomy, walking with or without deformity, parental educational status and occupation were documented. Outcomes of care were assessed using indictors such as parents' satisfaction with the outcome of treatment and the patients' ambulation without deformity. The relationships between the determinant factors and these outcomes were explored using multivariable binary logistic regression. Results: Most of the children (69.1%) were aged below 2 years. Brace compliance was very high (89.9%). The pre-treatment average Pirani scores were 3.9 ± 1.8 and 4.3 ± 1.8 for the right and left feet, respectively. Majority (88.3%) of the children achieved ambulation without deformity, whereas most (87%) of the parents were satisfied with the treatment outcomes. In total, parental satisfaction with child's treatment outcomes was lower in parents who were not formally educated odds ratio (OR) = 0.19 (95% confidence interval [CI] 0.08-0.43), but parental satisfaction was lower if the child had higher Pirani score OR = 0.77 (95% CI 0.62-0.96). Children who had more casts applied to the affected foot were more likely to walk without deformity OR = 1.24 (95% CI 1.01-1.52). Conclusions: This study revealed that treatment outcomes in children with club foot can be determined by some sociodemographic and treatment-related factors. [ABSTRACT FROM AUTHOR]

Objectives: To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome based on ultrasound findings and complete fetal exome sequencing. Materials and methods: A 33-year-old woman currently on treatment for hypothyroidism in whom a 19-week detailed anatomical ultrasound scan showed fetal deformities in more than two body areas (upper and lower limbs), suggesting a diagnosis of arthrogryposis. Genetic counseling was provided and amniocentesis was performed at 20 weeks for fluorescence in situ hybridization (FISH) analysis and complete fetal exome sequencing, with the latter allowing the identification of a heterozygous pathogenic variant of the MYH3 gene which is associated with type 2A distal arthrogryposis. Conclusions: Complete fetal exome sequencing was a key factor in identifying the MYH3 gene mutation and confirmed that the deformities seen on ultrasound were associated with type 2A distal arthrogryposis. It is important to perform complete fetal exome sequencing in cases of joint malformations seen on prenatal ultrasound. [ABSTRACT FROM AUTHOR]

Background: Idiopathic clubfoot is one of the most common and complex congenital deformities which are difficult to correct. Aims and Objectives: The present study was designed to assess the effectiveness and results of the Ponseti method’s early use in the treatment of idiopathic congenital talipes equinovarus (CTEV). Materials and Methods: Seventy-six feet in 50 patients of CTEV during the period of May 2019–May 2020 were studied. All the cases were treated by Ponseti technique. Children with idiopathic CTEV and age

Introduction: A plethora of pathologies can cause medial ankle pain. Material and methods: We present a case of 66-year-old male with medial ankle pain. Result: Bilateral CTEV (Congenital talipes equino varus) with impingement between the navicular and medial malleolus was present, which was contributing to medial ankle pain. Conclusion: One needs to be aware of this rare form of impingement in patients with medial ankle pain. [ABSTRACT FROM AUTHOR]

Background: Idiopathic clubfoot is one of the most common and complex congenital deformities which are difficult to correct. Aims and Objectives: The present study was designed to assess the effectiveness and results of the Ponseti method's early use in the treatment of idiopathic congenital talipes equinovarus (CTEV). Materials and Methods: Seventy-six feet in 50 patients of CTEV during the period of May 2019-May 2020 were studied. All the cases were treated by Ponseti technique. Children with idiopathic CTEV and age <1 year were included in our study. The severity of deformity was graded according to Pirani scoring system both at the beginning and at the end of treatment. Results: The mean age at presentation was 2.77 months. The mean initial Pirani score at time of presentation was 4.07, and at last follow-up was 0.13. We observed that 63 feet (82.89%) out of 76 feet required a percutaneous TA tenotomy along with plaster casting to correct the equines deformity. The mean total number of casts required to correct the deformity was 6.4. The mean duration of treatment from 1st plaster cast to cast for equinus correction was 8.4 weeks. About 94% of cases had a good outcome at last follow-up which was evaluated on the basis of Pirani score. The association of duration of treatment (weeks) with age and total number of cast with age has P=0.002 which was found to be significant. Conclusion: The Ponseti technique is a very safe, efficient, and acceptable economical treatment for the correction of CTEV that gives excellent results on conservative treatment and in most of the cases avoid surgical intervention if protocol followed as prescribed. If the age of the patient is higher at time of presentation, it requires a longer casting period and more number of casts to correct the deformity compared to younger children with the early presentation. [ABSTRACT FROM AUTHOR]

Background: The flexor retinaculum of foot extends from the medial malleolus to the calcaneus to form the roof of tarsal tunnel. The structures passing through the tunnel are tendons of tibialis posterior, flexor digitorum longus & flexor hallucis longus, the tibial nerve & the posterior tibial artery with its venae comitantes. In order to understand the pathogenesis and improve the treatment of tarsal tunnel syndrome, we investigated the tarsal region of human foetuses anatomically. Methodology: The study was done on aborted/ stillborn foetuses in the Department of Anatomy of Sapthagiri Institute of Medical, Sciences, Bangalore. The structures passing under the flexor retinaculum of foot were dissected in 68 normal limbs of 34 foetuses of gestational age ranging from 10 weeks to term. Results: It was noted that the structures were arranged in two planes. Most commonly the superficial plane contained the tendon of tibialis posterior, posterior tibial artery & tibial nerve from medial to lateral side. In the deeper plane were the tendons of flexor digitorum longus medial to that of flexor hallucis longus. The bifurcation of tibial nerve mostly occurred under cover of flexor retinaculum and that of posterior tibial artery was distal to it. Conclusion: The understanding of arrangement of structures under cover of flexor retinaculum is important for diagnosis and treatment of tarsal tunnel syndrome in adults and also for the surgical correction of clubfoot, poliomyelitis & other deformities of foot in children.

Relapse of deformity after a successful Ponseti treatment remains a problem for the management of clubfoot. An untreated varus heel position and restricted dorsal flexion of the ankle are the main features of recurrences. We analyze the anatomical structures responsible for these recurrences. Materials and methods: During 5 years, 52 children with CTEV (Congenital Talipes Equino Varus) were treated with casts according to the Ponseti method, with a mean number of 7 casts. Closed percutaneous tenotomy was performed in 28 infants. Children were followed monthly and treated with the continuous use of a molded cast. We had 9 children with relapsed clubfeet. During the standing and walking phase, they had a fixed deformity with a varus position of the heel and dorsal flexion of the ankle <10 d. They were surgically treated with the posterolateral approach. Results: In all patients, we found a severe thickening of the paratenon of the Achilles in the medial side, with adhesions with the subcutaneous tissue. The achilles after the previous tenotomy was completely regenerated. The achilles was medially displaced. Conclusions: A severe thickening of the paratenon of the achilles and adhesions with the subcutaneous tissue are anatomical structures in fixed relapsed cases of clubfoot. We treated our patients with an appropriate surgical release. [ABSTRACT FROM AUTHOR]

Purpose: This study aims to evaluate changes in tarsal bones relationship after the use of one week accelerated Ponseti method in the treatment of severe idiopathic clubfoot using MRI. We hypothesize that one-week accelerated Ponseti is at least as effective as standard techniques in achieving the desirable MRI parameters.Methods: This is a prospective study of 8 children with severe idiopathic clubfeet (Pirani 6) (4 unilateral and 4 bilateral) treated before the age of three months with one-week accelerated Ponseti technique, as described in a former study with minimum 2-year follow-up. The 8 corrected feet were compared with the 4 unilateral normal feet at clinical and radiological levels using a Pirani scoring system and an MRI, respectively.Results: Clinical results showed that Pirani score was 1.1 in the last follow up in comparison to Pirani 6 pretreatment (p < 0.05). MRI results indicated that the malleocalcaneal angle, axial malleocalcaneal index, coronal tibiocalcaneal angle, sagittal talocalcaneal angle, and talar head neck calcaneal rotation showed statistical difference between the two groups (p < 0.05). Sagittal malleocalcaneal index, sagittal tibiocalcaneal angle, talar head neck rotation related to talar body, and posterior calcaneal rotation showed no statistical difference between normal feet and clubfeet after correction (p value >0.05).Conclusion: One-week accelerated Ponseti technique showed to be as effective and safe as other treatment methods through clinical and MRI follow up data. MRI role was to confirm the efficiency of this innovative accelerated technique, but not used as a routine follow up. [ABSTRACT FROM AUTHOR]

Trabecular bone anisotropy, describing preferential trabecular co‐alignment, is a proxy for its long‐term loading history. Trabecular anisotropy varies locally, thus rendering averaged calculations across an entire bone inutile. Here we present a 3D trabecular anisotropy mapping method using vector fields where each vector reflects the extent of local co‐alignment of the elementary units of surface. 3D anisotropy maps of hundreds of thousands of vectors were visualized by their magnitude and direction. Similarly, volume fraction was mapped as 3D scalar fields. We constructed anisotropy and volume fraction maps using micro‐computed tomography of four presumably nonpathologic human calcanei and compared their anisotropy signature with pathologically loaded calcanei in club foot and calcaneonavicular ankylosis. In the nonpathologic calcaneus, a pattern of four anisotropy trajectories (bands) was consistently identified as dorsal, plantar, Achilles', and peroneal bands. Both pathologic specimens deviated from the nonpathologic maps. The calcaneus in the congenitally disused club foot showed very low local anisotropy values, no co‐oriented bands, and low volume fraction. The ankylosed calcaneus showed lower anisotropy than the nonpathologic calcaneus, but not to the same extent as the club foot, and showed patchy high volume fraction. The directionality of co‐oriented bands was barely discernable in the ankylosed calcaneus as compared to nonpathologic calcaneus. The anisotropy signature of the nonpathologic calcaneus is consistent with a kinetic loading pattern attributable to walking. The loss of this kinetic loading results in an absent/vanishing anisotropy signature. Such 3D mapping adds new dimensions to quantitative bioimaging of bone and the understanding of skeletal adaptation. [ABSTRACT FROM AUTHOR]

Abstract Background Clubfoot is one of the most prevalent musculoskeletal congenital defects. Gold standard treatment of idiopathic clubfoot is the conservative Ponseti method, including the reduction of deformity with weekly serial plaster casting and percutaneous Achilles tenotomy. It is well known that parents of children with severe and chronic illnesses are mentally stressed, but in recent studies regarding clubfoot treatment, parents were only asked about their satisfaction with the treatment. Largely unknown is parental distress before and during plaster casting in clubfoot. Therefore, we want to determinate first, how pronounced the parents’ worries are before treatment and if they decrease during the therapy. Second, we hypothesized that parents faced with an extreme deformity (high Pirani score), reveal more distress, than parents whose children have a less pronounced deformity (low Pirani score). Therefore, we wanted to investigate whether the Pirani score correlates with the parents’ mental resilience in relation to the therapy of the child as a global distress parameter. Methods To answer this question, we developed a questionnaire with the following emphases: Physical capacity, mental resilience, motion score, parents score, and child score with point scores 1 (not affected) to 6 (high affected). Subsequently, we interviewed 20 parents whose children were treated with clubfeet and determined the Pirani score of the infants at the beginning (T 0) and at the end (T E) of the treatment with plaster casting. Results High values were obtained in child score (Mean (M) = 3.11), motion score (M = 2.63), and mental resilience (M = 2.25). During treatment, mental resilience improved (p = 0.015) significantly. Spearman correlation coefficient between Pirani score (T 0) and mental resilience (T 0) is 0.21, so the initial hypothesis had to be rejected. Conclusion The issues of the children are in the focus of parental worries concerning clubfoot treatment, especially the assumed future motion and the assumed ability to play with other children. Particular emphasis should be placed on educating parents about the excellent long-term results in the function of the treated feet especially as this topic shows the greatest parental distress.

OBJECTIVE: To analyze the impact of Ponseti technique on parents of children with club foot. METHODOLOGY: It was a descriptive cross-sectional study, conducted at Dow University of hospital and Civil Hospital Karachi from August-October 2017. After taking informed consent, the parents of the children who had a club foot deformity, treated in our club foot clinic were included in the study. Research team members, filled the questionnaires. Sampling technique was non-probability type. SPSS version 16 was used for statistical analysis. RESULTS: Out of 292 respondents, 152(51.2%) were only fathers working, 41(13.8%) only mother working and 99(33.3%) are both working. 124(41.8%) had a family history of club foot. 186(62.6%) children need tenotomy. Anxiety related to Ponseti technique prior to treatment observed in 232(78.1%) and 60(20.2%) had no anxiety before treatment. Anxiety regarding tenotomy before the procedure was in172(57.9%) where as 38.7% had no anxiety. Regarding problems during casting, 58(19.5%) had irritability, 22(7.4%) had problems during nursing, 212 (1.4%) had both of these problems. Skin rashes and blisters were observed in 122(41.1%) whereas 170(57.2%) had mild redness only. CONCLUSION: Ponseti technique is a very effective and successful method of treatment. Parent’s perspective regarding Ponseti technique is that they are satisfied at the completion of treatment, but they got casting phase very difficult because of problems in maintaining hygiene. Initial period of bracing was difficult because of child’s irritability and skin problems.

BackgroundAlkuraya–Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot, and global developmental delay. Most reported cases were cases of premature termination of pregnancies or neonatal deaths. To date, limited studies of nine surviving patients with global developmental delay and intellectual disability have been reported. In this study, we report another surviving patient.MethodsWhole-exome sequencing was utilized for the proband, and variants were filtered, annotated, and classified. Candidate variants were validated by Sanger sequencing of the proband and his family. The literature was reviewed; the prognosis among different regions and the variant type was analyzed.ResultsA non-synonymous variant [NM_015312.3: exon29: c.4892C>G (p.Pro1631Arg)] was identified and validated in the patient's father. A frameshift duplication [NM_015312.3: exon62: c.10872dupA (p.Arg3625Lysfs*5)] that caused early translation termination was identified in his mother. The literature was reviewed, variants were classified into three regions of KIAA1109, and their survival status was summarized.ConclusionWe reported another survival proband with Alkuraya–Kučinskas syndrome driven by KIAA1109. Our case expands the genotypic spectrum of Alkuraya–Kučinskas syndrome and explored the relationship between the variant region and survival.

VACTERL association is a statistical association of vertebral(V), anal(A), cardiac(C), tracheoesophageal(TE), renal(R), and limb(L) abnormalities (VACTERL). Diagnosis of VACTERL can be made if anomalies in three or more organ systems indicated by the acronym are present and no other recognizable pattern of human malformations exists. We hereby present a case of a primigravida in her 20s, whose prenatal scan at 13 weeks of gestation revealed a fetus having a short spine, single outflow tract, and increased nuchal translucency. Chromosome microarray on amniotic fluid showed no quantitative genomic imbalance. A repeat scan at 21 weeks disclosed lumbar scoliosis with hemivertebrae, tetralogy of Fallot, and a single umbilical artery. After undergoing counselling, in light of the adverse outcomes and poor quality of life of the offspring, the parents decided to terminate the pregnancy. The abortus was subsequently sent to the histopathology lab for autopsy. The gross examination of the fetus unveiled an umbilical cord with only two vessels, right congenital talipes equinovarus (club foot), left congenital talipes equinovalgus, and right foot polydactyly. Internal examination of the cardiovascular system verified the presence of tetralogy of Fallot. The kidogram of the fetus was consistent with a butterfly vertebral body of D11 and D12 with right-side hemivertebrae. This case illustrates the importance of foetal autopsy for confirming the prenatal diagnosis and identifying abnormalities in syndromes or associations. The classification especially plays a crucial role in the case of recurrent abortions to point out the underlying aetiology and counsel the parents regarding the recurrence risk., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Jawalkar et al.)

ABSTRACT Objective: The aim of this study was to verify whether the Pirani and Dimeglio clinical scoring systems could predict results of Ponseti therapy. Methods: Forty-seven patients with clubfoot deformities treated with the Ponseti method were enrolled in the study. Clinical evaluation with the Pirani and Dimeglio scoring systems was performed before the treatment and after the second cast fixation. The number of fixations, necessity for achillotomy, and recurrence of the deformity were determined as parameters of the therapy results. The patients were divided into three groups according to the severity of their deformities, and the groups were compared with one another. Results: Clubfoot correction required an average of 6.8 casts. Five patients developed a recurrence. Comparing the therapy outcomes among the groups, we found statistically significant differences in the Pirani classification after the second fixation (the number of casts [p =.003] and necessity to perform an achillotomy [p =.014]) and in the Dimeglio scores before therapy (number of casts [p =.034]) and after the second fixation (number of relapses [p =.032]). Conclusion: Although clinical scoring systems showed some dependence on the parameters of treatment outcomes, their predictive function can be used in only a limited way. Level of evidence II, Prospective comparative study.

Relapse of deformity after a successful Ponseti treatment remains a problem for the management of clubfoot. An untreated varus heel position and restricted dorsal flexion of the ankle are the main features of recurrences. We analyze the anatomical structures responsible for these recurrences. Materials and methods: During 5 years, 52 children with CTEV (Congenital Talipes Equino Varus) were treated with casts according to the Ponseti method, with a mean number of 7 casts. Closed percutaneous tenotomy was performed in 28 infants. Children were followed monthly and treated with the continuous use of a molded cast. We had 9 children with relapsed clubfeet. During the standing and walking phase, they had a fixed deformity with a varus position of the heel and dorsal flexion of the ankle

Background: Clubfoot is one of the most prevalent musculoskeletal congenital defects. Gold standard treatment of idiopathic clubfoot is the conservative Ponseti method, including the reduction of deformity with weekly serial plaster casting and percutaneous Achilles tenotomy. It is well known that parents of children with severe and chronic illnesses are mentally stressed, but in recent studies regarding clubfoot treatment, parents were only asked about their satisfaction with the treatment. Largely unknown is parental distress before and during plaster casting in clubfoot. Therefore, we want to determinate first, how pronounced the parents' worries are before treatment and if they decrease during the therapy. Second, we hypothesized that parents faced with an extreme deformity (high Pirani score), reveal more distress, than parents whose children have a less pronounced deformity (low Pirani score). Therefore, we wanted to investigate whether the Pirani score correlates with the parents' mental resilience in relation to the therapy of the child as a global distress parameter. Methods: To answer this question, we developed a questionnaire with the following emphases: Physical capacity, mental resilience, motion score, parents score, and child score with point scores 1 (not affected) to 6 (high affected). Subsequently, we interviewed 20 parents whose children were treated with clubfeet and determined the Pirani score of the infants at the beginning (T0) and at the end (TE) of the treatment with plaster casting. Results: High values were obtained in child score (Mean (M) = 3.11), motion score (M = 2.63), and mental resilience (M = 2.25). During treatment, mental resilience improved (p = 0.015) significantly. Spearman correlation coefficient between Pirani score (T0) and mental resilience (T0) is 0.21, so the initial hypothesis had to be rejected. Conclusion: The issues of the children are in the focus of parental worries concerning clubfoot treatment, especially the assumed future motion and the assumed ability to play with other children. Particular emphasis should be placed on educating parents about the excellent long-term results in the function of the treated feet especially as this topic shows the greatest parental distress. [ABSTRACT FROM AUTHOR]

Background: Alkuraya-Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot and global developmental delay. KIAA1109, a functionally uncharacterized gene is identified as the molecular cause for Alkuraya-Kučinskas syndrome. Most of the reported mutations in KIAA1109 gene result in premature termination of pregnancies or neonatal deaths while a few mutations have been reported in surviving patients with global developmental delay and intellectual disability. To our knowledge, only three surviving patients from two families have been reported with missense variants in KIAA1109. In this study, we describe four surviving patients from two related families (a multiplex family) with global developmental delay and mild to severe intellectual disability with no other systemic manifestations. There were no miscarriages or neonatal deaths reported in these families. Methods: X-chromosome exome panel sequencing was carried out in one patient and whole exome sequencing was carried out on the remaining three affected individuals and the unaffected father of the index family. Data analysis was carried out followed by variant filtering and segregation analysis. Sanger sequencing was carried out to validate the segregation of mutation in all four affected siblings and unaffected parents from both families. Results: A novel homozygous missense mutation in a conserved region of KIAA1109 protein was identified. Sanger sequencing confirmed the segregation of mutation in both families in an autosomal recessive fashion. Conclusion: Our study is the second study reporting a KIAA1109 variant in surviving patients with Alkuraya-Kučinskas syndrome. Our study expands the spectrum of phenotypic features and mutations associated with Alkuraya-Kučinskas syndrome. [ABSTRACT FROM AUTHOR]