Diagnóstico prenatal, síndrome Freeman-Sheldon mediante ultrasonido y estudio genético. Reporte de caso / Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report

Objetivos: Describir un caso de diagnóstico prenatal de síndrome de Freeman-Sheldon mediante hallazgos ecográficos y secuenciación completa del exoma fetal. Materiales y métodos: Mujer de 33 años, con antecedentes de hipotiroidismo en tratamiento, a quien en semana 19 se realizó ecografía de detalle anatómico, en la cual se observaron deformidades en el feto en más de dos áreas corporales (extremidades superiores e inferiores), sugiriendo el diagnóstico de artrogriposis. Posteriormente, se brindó asesoría genética y se realizó amniocentesis en semana 20 de gestación, con análisis de la hibridación in situ por fluorescencia, seguido de secuenciación completa del exoma fetal. Este último examen permitió identificar una variante patogénica heterocigota en el gen MYH3, la cual se asocia con la artrogriposis distal tipo 2A. Conclusiones: La realización de la secuenciación completa de exoma fetal es un factor clave para identificar la mutación del gen MYH3, y confirma que las deformidades evidenciadas por ultrasonido estaban relacionadas con la artrogriposis distal tipo 2A. Es importante hacer la secuenciación de exoma fetal en fetos que muestren hallazgos de malformaciones articulares en el ultrasonido prenatal.

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.

Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report / Diagnóstico prenatal, síndrome Freeman-Sheldon mediante ultrasonido y estudio genético. Reporte de caso

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 patient 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.

Objetivos: describir un caso de diagnóstico prenatal de síndrome de Freeman-Sheldon mediante hallazgos ecográficos y secuenciación completa del exoma fetal. Materiales y métodos: mujer de 33 años, con antecedentes de hipotiroidismo en tratamiento, a quien en semana 19 se realizó ecografía de detalle anatómico, en la cual se observaron deformidades en el feto en más de dos áreas corporales (extremidades superiores e inferiores), sugiriendo el diagnóstico de artrogriposis. Posteriormente, se brindó asesoría genética y se realizó amniocentesis en semana 20 de gestación, con análisis de la hibridación in situ por fluorescencia, seguido de secuenciación completa del exoma fetal. Este último examen permitió identificar una variante patogénica heterocigota en el gen MYH3, la cual se asocia con la artrogriposis distal tipo 2A. Conclusiones: la realización de la secuenciación completa de exoma fetal es un factor clave para identificar la mutación del gen MYH3, y confirma que las deformidades evidenciadas por ultrasonido estaban relacionadas con la artrogriposis distal tipo 2A. Es importante hacer la secuenciación de exoma fetal en fetos que muestren hallazgos de malformaciones articulares en el ultrasonido prenatal.

Anatomical Structures Responsible for CTEV Relapse after Ponseti Treatment.

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.

Calf Augmentation.

Calf augmentation is a very gratifying procedure with immediate and reproducible results. The procedure can be successfully performed by novice and expert surgeons alike, making sure to respect anatomic boundaries and avoiding over dissection. Major complications can be avoided with meticulous closure of the wound and restriction of activity postoperatively as well as use of compression stockings until sufficient scar tissue has developed.

Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kucinskas Syndrome: A New Case Report and a Review of the Literature.

Background: Alkuraya-Kucinskas 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. Methods: Whole-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. Results: A 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. Conclusion: We reported another survival proband with Alkuraya-Kucinskas syndrome driven by KIAA1109. Our case expands the genotypic spectrum of Alkuraya-Kucinskas syndrome and explored the relationship between the variant region and survival.

Magnetic resonance imaging of severe idiopathic club foot treated with one-week accelerated Ponseti (OWAP) technique.

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.

All-trans-retinoic acid suppresses rat embryo hindlimb bud mesenchymal chondrogenesis by modulating HoxD9 expression.

In vertebrates, 5'-Hoxd genes (Hoxd9), which are expressed in the hindlimb bud mesenchyme, participate in limb growth and patterning in early embryonic development. In the present study, We investigated the mechanisms by which ATRA regulates cultured E12.5 rat embryo hindlimb bud mesenchymal cells (rEHBMCs). Following exposure to ATRA over 24 h, mRNA and protein expression levels of HoxD9 were evaluated by reverse transcription-polymerase chain reaction (RT-PCR), quantitative real-time PCR (qPCR), and western blotting. Flow cytometry was used to detect apoptosis. ATRA inhibited the condensation and proliferation, and promoted the apoptosis rate of the rEHBMCs in a dose-dependent manner. Sox9 and Col2a1 in rEHBMCs were downregulated by ATRA in a dose-dependent manner at both mRNA and protein levels. Similarly, HoxD9 was downregulated by ATRA in a dose-dependent manner, in parallel with the cartilage-specific molecules Sox9 and Col2a1. Both qPCR and western blotting showed that both Shh and Gli3 were downregulated. Overexpression of HoxD9 reversed the effects of ATRA. These results demonstrate that ATRA suppresses chondrogenesis in rEHBMCs by inhibiting the expression of HoxD9 and its downstream protein targets, including Sox9 and Col2a1. This effect may also be correlated with inhibition of the Shh-Gli3 signaling pathway.

Treatment of Relapsed and Neglected Pes Equinovarus with Binary Arthrodesis and Hexapodal Spider Frame.

PURPOSE: The aim of this study was to assess the clinical and radiological outcomes of patients with recurrent or neglected pes equinovarus (PEV), who underwent talonavicular or calcaneocuboid arthrodesis with a hexapod spider frame. METHODS: The study included 18 patients; a total of 25 feet were treated with dual arthrodesis and a hexapod spider frame. The International Club Foot Study Group (ICFSG) scoring system and visual analog scale (VAS) were used to assess preoperative status and postoperative outcomes. All functional, morphological and radiologic evaluations during the follow-up were done as described by Kling et al. RESULTS: Patients were followed up for an average of 24.1 ± 11.8 months. The mean age of our cohort was 8.84 ± 2.83 years. The mean duration of correction was 3 weeks and the mean duration treatment length was 15.3 ± 1.9 weeks. Postoperative assessment revealed eight excellent, 13 good, and four poor outcomes, according to the ICFSG scoring system. There was a significant difference between preoperative and postoperative ICFSG scores, 12 feet showed an excellent outcome, 12 feet had good outcomes, and one foot was rated as a failure in the final assessment, based on the Kling criteria. There was also a significant difference between preoperative and postoperative VAS scores. CONCLUSION: Dual arthrodesis plus a hexapod spider frame is a valuable option for patients with recurrent or neglected PEV. It can be offered safely to avoid secondary recurrences and potential complications in cases of rigid feet as well as challenging cases that are resistant to soft tissue manipulation.

Clubfoot treatment with Ponseti method-parental distress during plaster casting.

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.

KIAA1109 gene mutation in surviving patients with Alkuraya-Kucinskas syndrome: a review of literature.

BACKGROUND: Alkuraya-Kucinskas 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-Kucinskas 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-Kucinskas syndrome. Our study expands the spectrum of phenotypic features and mutations associated with Alkuraya-Kucinskas syndrome.

Results of JESS (Joshi's External Stabilizing System) in Relapsed, Neglected and Neurogenic Clubfoot in an Age Group of 2-10 Years.

BACKGROUND: Joshi's External Stabilization System (JESS) is an external fixator based methodology to correct different deformities of club foot using differential distraction. MATERIAL AND METHODS: 31 difficult clubfeet feet in 24 patients who were neglected, neurogenic or relapsed were treated using JESS between July 2013 to June 2015 with an average follow-up of 4. 2 years. There were 16 males and 8 females in an age group of 2-10 years. 30 feet belonged to the severe and most severe group as per the Dimeglio Scoring System. All patients achieved correction of all components of the clubfoot. RESULTS: However, one patient required tibialis anterior transfer for dynamic forefoot adduction at the end of treatment. The mean total duration in JESS fixation was 69.5 days/foot (range 44-123 days) and the mean time to achieve correction within JESS averaged 52 days. The deformities improved from a mean Dimeglio score of 14.06 to 2.93. The objective radiological assessment of the deformities revealed improvements in the talocalcaneal angle on AP view from 16.39° to 34.52° and on lateral view from 15.97° to 33.03°. The Talo-1st metatarsal angle (AP view) improved from 35.29° to 7°. Complications included 11 cases of superficial pin tract infection, two instances of pin loosening and a case of pin cut out. There were three cases of 1st metatarsophalangeal dislocation that were managed by reversing the process of distraction. CONCLUSION: JESS is an effective method for managing difficult clubfeet.

Suture Button Technique for Tibialis Anterior Tendon Transfer for the Treatment of Residual Clubfoot.

BACKGROUND: The Ponseti method has revolutionized the treatment of idiopathic clubfoot, but recurrence remains problematic. Dynamic supination is a common cause of recurrence, and the standard treatment is tibialis anterior tendon transfer using an external button. Although safe and effective, the placement of the button on the sole creates a pressure point, which can lead to skin ulceration. In our institution, a suture button has been used for the tibialis anterior tendon transfer and we report our results here. METHODS: Two senior authors' case logs were retrospectively reviewed to identify 23 patients (34 feet) for tibialis anterior tendon transfer using a suture button. Complications and additional operative procedures were assessed by reviewing operative notes, follow-up visit clinic notes, and radiographs. The mean age of the patients was 6 years 2 months (SD 40 months) and the average follow-up duration was 67.1 weeks (SD 72 weeks). RESULTS: There were 5 complications (14.7%). Recurrence occurred bilaterally in 1 patient (5.9%) but did not require reoperation. Other complications included a cast-related pressure sore (2.9%) and an infection (2.9%) requiring irrigation with debridement along with hardware removal. CONCLUSIONS: Tibialis anterior tendon transfer using a suture button was a safe procedure with theoretical advantage of providing stronger fixation and reducing the risk of skin pressure necrosis compared to the standard external button technique. We believe a suture button could allow earlier rehabilitation and may afford stronger ankle eversion. Prospective studies are required to compare the differences in functional outcomes between the procedures. LEVEL OF EVIDENCE: Level IV, case series, therapeutic study.

The Pediatric Foot and Ankle.

Foot and ankle pathology is common in the pediatric population. Common issues may be traumatic in nature, congenital, or age dependent. This article reviews common problems and pathology found in the pediatric foot and ankle.

Pediatric Anesthesia Concerns and Management for Orthopedic Procedures.

Anesthetic management of pediatric orthopedic patients is uniquely challenging. Approach to the pediatric patient must consider heightened preoperative anxiety and its postoperative behavioral and pain effects. Frequent respiratory infections can complicate timing of surgery and anesthetic care. Perioperative pain management usually involves a multimodal pharmacologic approach with the goal of minimizing opioid requirements. Regional anesthesia is valuable for postoperative pain control. Safety of its use in the pediatric population has been confirmed in recent studies. Included for discussion are fractures, slipped capital femoral epiphysis, club foot, and scoliosis.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Pathogenic variants in the X-linked gene ZC4H2, which encodes a zinc-finger protein, cause an infrequently described syndromic form of arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement. We present genetic and detailed phenotypic information on 23 newly identified families and simplex cases that include 19 affected females from 18 families and 14 affected males from nine families. Of note, the 15 females with deleterious de novo ZC4H2 variants presented with phenotypes ranging from mild to severe, and their clinical features overlapped with those seen in affected males. By contrast, of the nine carrier females with inherited ZC4H2 missense variants that were deleterious in affected male relatives, four were symptomatic. We also compared clinical phenotypes with previously published cases of both sexes and provide an overview on 48 males and 57 females from 42 families. The spectrum of ZC4H2 defects comprises novel and recurrent mostly inherited missense variants in affected males, and de novo splicing, frameshift, nonsense, and partial ZC4H2 deletions in affected females. Pathogenicity of two newly identified missense variants was further supported by studies in zebrafish. We propose ZC4H2 as a good candidate for early genetic testing of males and females with a clinical suspicion of fetal hypo-/akinesia and/or (neurogenic) AMC.

ARE SCORING SYSTEMS USEFUL FOR PREDICTING RESULTS OF TREATMENT FOR CLUBFOOT USING THE PONSETI METHOD?

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.

OBJETIVO: O objetivo deste estudo foi verificar se os sistemas de pontuação clínica de Pirani e Dimeglio poderiam servir para prever os resultados do tratamento com o método de Ponseti. MÉTODOS: Quarenta e sete pacientes com diagnóstico de pé torto equinovaro tratados pelo método de Ponseti foram incluídos no estudo. A avaliação clínica com os sistemas de pontuação de Pirani e Dimeglio foi realizada antes do tratamento e depois da segunda fixação de gesso. O número de fixações com gesso, a necessidade de realização de aquilotomia e a recorrência da deformidade foram determinadas como parâmetros dos resultados do tratamento. Os pacientes foram divididos em três grupos, de acordo com a gravidade das deformidades, e esses grupos foram comparados entre si. RESULTADOS: A correção do pé torto exigiu uma média de 6,8 gessos e cinco pacientes apresentaram recidiva. Ao comparar os resultados do tratamento entre os grupos, verificou-se diferença estatisticamente significante na classificação de Pirani após a segunda fixação (número de gessos [p = 0,003], necessidade de realizar aquilotomia [p = 0,014]) e pontuação de Dimeglio antes do tratamento (número de gessos [p = 0,034]) e depois da segunda fixação (número de recidivas [p = 0,032]). CONCLUSÃO: Embora os sistemas de pontuação clínica tenham mostrado alguma dependência dos parâmetros dos resultados do tratamento, sua função preditiva pode ser usada de maneira limitada. Nível de evidência II, Estudo comparativo prospectivo.

Are scoring systems useful for predicting results of treatment for clubfoot using the ponseti method? / Os sistemas de pontuação são úteis para prever os resultados do tratamento de pé torto equinovaro pelo método de ponseti?

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.

RESUMO Objetivo: O objetivo deste estudo foi verificar se os sistemas de pontuação clínica de Pirani e Dimeglio poderiam servir para prever os resultados do tratamento com o método de Ponseti. Métodos: Quarenta e sete pacientes com diagnóstico de pé torto equinovaro tratados pelo método de Ponseti foram incluídos no estudo. A avaliação clínica com os sistemas de pontuação de Pirani e Dimeglio foi realizada antes do tratamento e depois da segunda fixação de gesso. O número de fixações com gesso, a necessidade de realização de aquilotomia e a recorrência da deformidade foram determinadas como parâmetros dos resultados do tratamento. Os pacientes foram divididos em três grupos, de acordo com a gravidade das deformidades, e esses grupos foram comparados entre si. Resultados: A correção do pé torto exigiu uma média de 6,8 gessos e cinco pacientes apresentaram recidiva. Ao comparar os resultados do tratamento entre os grupos, verificou-se diferença estatisticamente significante na classificação de Pirani após a segunda fixação (número de gessos [p = 0,003], necessidade de realizar aquilotomia [p = 0,014]) e pontuação de Dimeglio antes do tratamento (número de gessos [p = 0,034]) e depois da segunda fixação (número de recidivas [p = 0,032]). Conclusão: Embora os sistemas de pontuação clínica tenham mostrado alguma dependência dos parâmetros dos resultados do tratamento, sua função preditiva pode ser usada de maneira limitada. Nível de evidência II, Estudo comparativo prospectivo.

Effect of inbreeding on the "Club Foot" disorder in Arabian Pureblood horses reared in Italy.

Background: "The Club Foot" (or "Mismatched Foot") is an acquired or congenital flexural deformity of the distal interphalangeal joint, caused by a shortening of the musculotendinous unit of the deep digital flexor tendon. Aim: The aim of this research was to detect the incidence of the disorder in Arabian Pureblood horses, attempting to understand its causes and to analyze a possible role of inbreeding in its expression. In this breed, in fact, the pathology is widespread because in the environment of origin, the rocky desert, a hard and almost goat's hoof is not disabling so the selection against this disorder has never been done. Methods: Pedigrees were taken from 141 (reference population = RP) adult Arabian Pureblood horses (51 males and 90 females) belonging to eight Italian different farms during the period 1982-2017. For each horse, the presence or not of the disorder was observed and inbreeding coefficients (F) was performed. Four grades of deformity were considered. Moreover, the environmental condition of each farm was considered: boxes, paddocks, nutrition, orientation, and hoof care and shoeing. The chi-square test was applied. Analysis of variance (ANOVA) was used to test the differences in the average inbreeding coefficient (F) between affected and healthy animals, between sexes and between shod and unshod animals. Results: Two grades of deformity were observed (I and II) which give less severe manifestations, with 28 females and 25 males (37.59% of the examined horses) showing the disorder. No differences between males and females or between shod (38.29%) and unshod (61.70%) were observed. Environmental conditions do not influence the rate of pathology in the different farms, with a prevalence of the disorder ranging from 7.69% up to 100% on farm. The whole population (WP = RP and its genealogy) included 3,355 records subdivided in seven traced generations. One hundred and eighteen out of 141 horses (RP) were inbred (83.69%). The average inbreeding coefficient (F) in the RP was 0.095. Inbreeding coefficient in RP was <0.05 in only 15 horses (12.71% of inbred), whereas it was >0.25 in 28 horses (23.73% of inbred). Conclusion: High inbreeding coefficients were observed in all farms and in particularly in affected animals suggesting that high inbreeding coefficients increases the probability that the disorder occurs. Future works may include the study of the hereditability of the character, and the attempt to identify loci associated with the disorder.

Club foot in association with the 22q11.2 deletion syndrome: An observational study.

The 22q11.2 Deletion Syndrome (22q11.2DS) occurs in ~1:3,000-6,000 individuals. Features less typically associated with 22q11.2DS, such as orthopedic manifestations, may be overlooked or may not lead to appropriate diagnostic testing. Club foot has a general population prevalence of ~1:1,000 and has been occasionally described in association with 22q11.2DS. Our hypothesis is that the prevalence of club foot is higher in patients with 22q11.2DS. We performed a retrospective review in two specialized 22q11.2DS centers to determine the prevalence of club foot. "True club foot" requires treatment (either conservative or surgical), therefore we only included those patients with proof of treatment. We investigated whether congenital heart disease (CHD) and/or cleft palate were associated with the presence of club foot within 22q11.2DS. The records of 1,466 patients were reviewed. Of these, 48 (3.3%) had confirmation of club foot (95% Confidence Interval: 2.4-4.3): 22 (46%) had a bilateral, 12 (25%) left, and 14 (29%) right club foot. Within our study, neither a CHD and/or a cleft palate were associated with a club foot. The prevalence of club foot in 22q11.2DS is 30 times higher than that observed in the general population. This suggests the diagnosis of club foot, especially in the face of other typically associated abnormalities of 22q11.2DS, should provoke consideration of 22q11.2DS as an underlying diagnosis, particularly in the neonatal setting.

Correlations between physical and ultrasound findings in congenital clubfoot at birth.

BACKGROUND: At birth, clinical classifications are the only available tools for evaluating the severity of congenital clubfoot. Ultrasound provides an assessment of the anatomical abnormalities. The objective of this study was to assess correlations between physical and ultrasound findings at birth. HYPOTHESIS: Physical and ultrasonography provide different findings in congenital clubfoot and should therefore be used in conjunction. MATERIAL AND METHOD: One hundred and forty-five clubfeet in 108 patients born between 2006 and 2010 were included in a retrospective study. Clubfoot severity was classified using two methods, the modified Dimeglio classification based on physical findings and an ultrasound score based on the talo-navicular angle (TNA) and metaphyso-talo-calcaneal angle (MTCA). Each of these two methods distinguished three severity grades. Agreement between the two methods was assessed by computing the coefficient. RESULTS: The results confirmed the hypothesis by showing low agreement between the clinical and ultrasound classifications. The severity grades were identical with the two methods for only 83/145 (57%) feet. The coefficient was 0.086. DISCUSSION: The two ultrasound views used to measure the TNA and MTCA, respectively, added an assessment of the three main deformities that characterise congenital clubfoot (equinus, adduction of the forefoot, and adduction of the calcaneo-pedal unit). Ultrasonography complements the physical examination at birth. In the future, using both physical examination and ultrasound scanning to monitor babies with clubfoot may allow early treatment adjustments aimed at optimising the outcome. LEVEL OF EVIDENCE: IV, retrospective observational study.