Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis

The term “arthrogryposis” is used to indicate multiple congenital contractures affecting two or more areas of the body. Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and development. The causes of arthrogryposis are multiple, and in newborns, it is difficult to predict the molecular defect as well as the clinical evolution just based on clinical findings. We studied a consecutive series of 13 participants who had amyoplasia, distal arthrogryposis (DA), or syndromic forms of arthrogryposis with normal intellectual development and other motor abilities. The underlying pathogenic variants were identified in 11 out of 13 participants. Correlating the genotype with the clinical features indicated that prenatal findings were specific for DA; this was helpful to identify familial cases, but features were non-specific for the involved gene. Perinatal clinical findings were similar among the participants, except for amyoplasia. Dilatation of the aortic root led to the diagnosis of Loeys–Dietz syndrome (LDS) in one case. The phenotype of DA type 5D (DA5D) and Escobar syndrome became more characteristic at later ages due to more pronounced pterygia. Follow-up indicated that DA type 1 (DA1)/DA type 2B (DA2B) spectrum and LDS had a more favorable course than the other forms. Hand clenching and talipes equinovarus/rocker bottom foot showed an improvement in all participants, and adducted thumb resolved in all forms except in amyoplasia. The combination of clinical evaluation with Next Generation Sequencing (NGS) analysis in the newborn may allow for an early diagnosis and, particularly in the DAs, suggests a favorable prognosis.

The Novel Application of Three-Dimensional Printing Assisted Patient-Specific Instrument Osteotomy Guide in the Precise Osteotomy of Adult Talipes Equinovarus

Objective. This current research is aimed at assessing clinical efficacy and prognosis of three-dimensional (3D) printing assisted patient-specific instrument (PSI) osteotomy guide in precise osteotomy of adult talipes equinovarus (ATE). Methods. We included a total of 27 patients of ATE malformation (including 12 males and 15 females) from June 2014 to June 2018 in the current research. The patients were divided into the routine group ( n = 12 ) and 3D printing group ( n = 15 ) based on different operative methods. The parameters, including the operative time, intraoperative blood loss, complications, time to obtain bony fusion, functional outcomes based on American Orthopedic Foot and Ankle Society (AOFAS), and International Congenital Clubfoot Study group (ICFSG) scoring systems between the two groups were observed and recorded regularly. Results. The 3D printing group exhibits superiorities in shorter operative time, less intraoperative blood loss, higher rate of excellent, and good outcomes presented by ICFSG score at last follow-up ( P < 0.001 , P < 0.001 , P = 0.019 ) than the routine group. However, there was no significant difference exhibited in the AOFAS score at the last follow-up and total rate of complications between the two groups ( P = 0.136 , P = 0.291 ). Conclusion. Operation assisted by 3D printing PSI osteotomy guide for correcting the ATE malformation is novel and feasible, which might be an effective method to polish up the precise osteotomy of ATE malformation and enhance the clinical efficacy.

The Health Determinants of Accessibility to Clubfoot Treatment in LMICs: A Global Exploration of Barriers and Solutions

Background: Clubfoot or Congenital Talipes Equinovarus (CTEV) treatment in newborn infants involves simple, non-invasive manipulation and is primarily managed non-surgically if identified early. In low- and middle-income countries (LMICs), less than 15% of patients with CTEV access treatment. This cross-sectional questionnaire study conducted descriptive and regression analysis of institutional reasons for CTEV management in LMICs. Methods: A cross-sectional study was undertaken of 1,489 medical institutions in 62 LMICs. Data were evaluated from the “World Health Organization Situation Analysis tool” database. We analyzed characteristics of institutions that manage and did not manage CTEV. With the use of a multivariate linear regression model, we identified a set of factors linked to referral for non-management of CTEV. Results: A total of 72.7% (1,083/1,395) of institutions surveyed did not manage CTEV. The most common reason cited for not managing CTEV was a lack of sufficient skills, 92.1% (668/725, P<0.001). A total of 39.4% (286/725) of institutions also cited a lack of functioning equipment as a reason. Multivariate linear regression analysis showed lack of training, lack of supplies, and lack of functioning equipment were most closely related to non-management of CTEV. Conclusion and Global Health Implications: We identified that failure to manage CTEV may result from a lack of skills and medical equipment. Increasing the capacity of sustainable training programs may reduce the presently available skill deficit in treating CTEV in LMICs and provide improved health outcomes for those with CTEV. While considerable progress has been made in building capacity for the treatment and management of CTEV in LMICs, structured training programs that support conservative manipulative methods to manage CTEV should be initiated globally. Copyright © 2021 Sheik-Ali et al. Published by Global Health and Education Projects, Inc. This is an open-access article distributed under the terms of the Creative Commons Attribution License CC BY 4.0.

Success of Ponseti Method in Idiopathic Club Feet of <2 Years and 2-5 years of age – A Comparative Study

Background: The Ponseti technique is the gold standard for treatment of clubfoot. However, the data in walking children is still limited and results are ill defined. Aim: We prospectively compared Ponseti method in clubfoot patients aged <2 and between 2 to 5 years in our local scenario. Methods: A total of 40 patients were included in the study through non-probability purposive sampling. The patients were examined, classified (Goldner and Fitch classification) and demographic information was recorded. They were explained about the risk and informed consent was taken. In group A, patients were below 2 years of age while in group B, patients were between 2-5 years of age. Ponseti casting was performed by a designated team. Follow-up was done for 6 months from the correction of feet. Results: We received 27(67.5%) male and 13(32.5%) female patients .The male to female ratio was 2:1. The mean age of patients in group A and B was 0.8±0.70 years and 4.3±2.1 years respectively. There was no statistical difference of severity of deformity of clubfoot in both study groups, p-value>0.05. In group A, 17 (85%) patients had success of procedure while in group B the success was achieved in 11 (55%) patients. The success rate was statistically significantly higher in group-A as compared to group B, p-value<0.001 Conclusion: Patient aged <2 years have significantly higher success rate as compared to patients aged between 2-5 years. So we recommend the Ponseti method as standard therapy in clubfoot management for patients with age<2 years and for correction of mild and moderate deformities in patients between 2 to 5 years. Keywords: Clubfoot, Congenital talipes equinovarus, Ponseti method

Association of Comorbid with Developmental Quotient in Down Syndrome Children

BACKGROUND: Down syndrome (DS) is the most common genetic disorder in children. Children with DS tend to have various comorbid due to developmental abnormalities of chromosome 21, such as congenital heart defects, hearing loss, otitis media, eye disorders, obstructive sleep apnea, thyroid hormone disorders, gastrointestinal atresia, hip joint dislocation, leukemia, and Hirschsprung’s disease. Moreover, they also show cognitive impairments in concentration, communication, memory, and the ability to carry out tasks. Caput Scale/Clinical Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT-CLAMS) is one of the developmental assessment instruments to screen for cognitive disorders. AIM: Hereby, we aimed to find the association of comorbid with developmental quotient in DS children. Data were obtained from medical record with sample age 0–18 years and suffering from DS. METHODS: This was observational analytic study with cross-sectional approach, conducted in DS children age 0–18 years who were treated in Sanglah Hospital in 2018. Characteristic data and comorbid were obtained from medical record, meanwhile, development status was assessed using Caput Scale/CAT-CLAMS. Chi-square was applied to determine the association between comorbidities and development quotient (DQ) in DS children. RESULTS: A total of 32 children with DS were treated in Sanglah Hospital during 2018 with median age was 2 years old and dominated by female patient (71.9%). Several comorbidities were found such as endocrine disorders in 27 children (84.3%), congenital heart disease (CHD) in 16 children (50%), and other comorbid including microcephaly, congenital cataract, palatoschizis, gastrointestinal defects, and congenital talipes equinovarus in 13 children (40.4%). The most common endocrine disorders was congenital hypothyroidism (81.25%), while the most common CHD was patent ductus arteriosus (25%). Bivariate Chi-square analysis showed significant association between comorbid and DQ (PR = 1.4 [95% CI 0.95–1.97], p = 0.03). CONCLUSION: We found an association between comorbidities and DQ in DS children.

Genotype-phenotype correlation in clubfoot (talipes equinovarus)

Clubfoot (talipes equinovarus) is a congenital malformation affecting muscles, bones, connective tissue and vascular or neurological structures in limbs. It has a complex aetiology, both genetic and environmental. To date, the most important findings in clubfoot genetics involve PITX1 variants, which were linked to clubfoot phenotype in mice and humans. Additionally, copy number variations encompassing TBX4 or single nucleotide variants in HOXC11, the molecular targets of the PITX1 transcription factor, were linked to the clubfoot phenotype. In general, genes of cytoskeleton and muscle contractile apparatus, as well as components of the extracellular matrix and connective tissue, are frequently linked with clubfoot aetiology. Last but not least, an equally important element, that brings us closer to a better understanding of the clubfoot genotype/phenotype correlation, are studies on the two known animal models of clubfoot—the pma or EphA4 mice. This review will summarise the current state of knowledge of the molecular basis of this congenital malformation.

Morphometric Measurements of Talus in South Keralites

BACKGROUND The posterior half of the foot is made of seven tarsal bones. Talus is seen above calcaneus. It has a head, neck and body. There are three facets anterior, middle and posterior facets that articulate with corresponding facets of the calcaneus. The middle and posterior facets are separated by a groove sulcus tali. We wanted to know the morphometric measurements of talus in South Keralites in this study. METHODS The study was done on 68 dry human tali of unknown age and sex in the Department of Anatomy, Government medical college, Trivandrum. The measurements were taken i.e., length, width and height of talus using vernier calipers. The length, width and height of sulcus tali were also measured. The range and mean of measurements were estimated. The calcaneal facets were studied and classified to find the most common and least common types. Data analysis was performed using SPSS ver 16.0. RESULTS The mean anteroposterior length of the talus was 4.84 ± 0.44 cm. The mean transverse length was 3.46 ± 0.47 cm. The mean height of the talus was 2.56 ± 0.31 cm. Anteroposterior length ranged from 3.84 to 6.07. The transverse length of the talus ranged from 2.81- 5 cm. Height of talus ranged from 2 - 3.2 cm. The mean anteroposterior length of sulcus tali was 2.09 ± 0.45 cm. The mean height of sulcus tali was 0.55 ± 0.09 cm. The mean width of sulcus tali was 0.62 ± 0.30 cm. Anteroposterior length of sulcus tali ranged from 1.4 - 3.8 cm. The transverse length of sulcus tali ranged from 0.34 to 1.6 cm. Height of sulcus tali ranged from 0.2 to 0.7 cm, regarding the type of facets, type 2 was most common and type 4 was found to be absent. CONCLUSIONS The adequate knowledge of the anatomy of the talus is significant not only to the anatomists but also to the orthopaedic surgeons as fractures of the talus are quite common and lead to avascular necrosis, arthritis and when unrecognized, chronic pain and non-union 3. Talectomy has been described as a limb-saving procedure for the treatment of neglected talipes equinovarus deformity. KEY WORDS Talus, Sulcus Tali, Calcaneal Facet Morphometric Measurements of Talus in South Keralites.