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Child Neurology Open 20181q43q44 microdeletion syndrome is characterized by intellectual disability/global developmental delay, epilepsy, dysmorphic facies, stereotypic movement, language delay,...
1q43q44 microdeletion syndrome is characterized by intellectual disability/global developmental delay, epilepsy, dysmorphic facies, stereotypic movement, language delay, recurrent infections, dental anomalies, and hand and foot anomalies. Microcephaly and corpus callosum dysplasia are present in some cases depending on gene content. 3q29 microduplication syndrome is characterized by intellectual disability, language delay, microcephaly, and dental anomalies. We report the first case with 4 de novo copy number variations with clinical features which overlap 1q43q44 microdeletion and 3q29 microduplication syndromes. Our case presented with global developmental delay, epilepsy, recurrent infections, stereotypic movements, speech delay, microcephaly, facial dysmorphism, bilateral clinodactyly, and small puffy feet with metatarsus varus; however, she had no corpus callosum dysplasia. Our case highlights the role of multiple copy number variations in the occurrence of a certain phenotype. Moreover, it supports the theory that the loss of gene function cannot explain the occurrence of microcephaly and abnormalities of the corpus callosum in 1q43q44 microdeletion syndrome.
PubMed: 30263904
DOI: 10.1177/2329048X18798200 -
Medical Science Monitor : International... Sep 2018BACKGROUND The aim of this study was to compare the effect of 2 methods for treating toe-in gait in children (reverse-shoe wearing and orthopedic insoles) and to...
BACKGROUND The aim of this study was to compare the effect of 2 methods for treating toe-in gait in children (reverse-shoe wearing and orthopedic insoles) and to determine whether reverse-shoe wearing results in hallux valgus. MATERIAL AND METHODS Between July 2012 and July 2014, 337 children diagnosed with toe-in gait over 2 years were recruited. For 139 children, parents selected use of reverse-shoe wearing treatment (RS group) and for 198 children, parents selected orthopedic insoles treatment (OI group). There were 98 children in the RS group and 167 in the OI group who completed the 12-month therapy and follow-up. We excluded 28 children who failed to complete the study, and 44 children who ceased treatment within the first month were selected as controls. Patients were assessed for up to 24 months after the cessation of treatment. Foot progression angle (FPA) and presence and degree of hallux valgus angle (HVA) were recorded. RESULTS FPA was significantly reduced after 6 months in both RS and OI groups (P<0.05). FPA returned to almost normal after 12 months of treatment, with no significant difference between the 2 groups. There were 29 cases (51 feet) of hallux valgus in the RS group after 12-month treatment; the HVA had significantly declined by 2 years after treatment with normal shoe wearing but did not return to normal. CONCLUSIONS Corrective treatment should be used with children diagnosed with toe-in gait over 2 years showing no remission. Both reverse-shoe wearing and orthopedic insoles show similar levels of treatment success, but reverse-shoe wearing has a significant adverse effect of hallux valgus.
Topics: Child; Child, Preschool; Female; Foot; Foot Orthoses; Gait; Hallux Valgus; Humans; Male; Metatarsus Varus; Shoes; Toes; Treatment Outcome
PubMed: 30180153
DOI: 10.12659/MSM.909072 -
Journal of Orthopaedic Case Reports 2018Crossover deformity of the first and second toes is not uncommon of a severe hallux valgus (HV) deformity. It can be corrected by adequate realignment of the hallux....
INTRODUCTION
Crossover deformity of the first and second toes is not uncommon of a severe hallux valgus (HV) deformity. It can be corrected by adequate realignment of the hallux. However, the crossover deformity may be complicated by also a concomitant varus deformity of the second toe. Although the pathoanatomy of second toe varus deformity has been well described, its pathogenesis is still unclear. Consequently, its treatment has been mostly symptomatic and notspecific to its pathogenesis. This is a 1-year follow-up report of spontaneous correction of the second toe varus deformity after a soft tissue procedure for HV and metatarsus primus varus (MPV) deformities correction.
CASE REPORT
A patient had bilateral HV and crossover deformities of her feet. She opted for a bilateral surgical treatment when conservation management failed to be helpful anymore. A soft tissue non-osteotomy technique called syndesmosis procedure was chosen for her deformities correction. Her crossover deformity was caused mainly by varus deformity of the second toe. Intraoperatively, the second toe varus deformity was found to correct itself spontaneously once the first metatarsal was realigned by a non-osteotomy intermetatarsal cerclage suture technique to correct the MPV deformity. Only themore severe second toe deformity of right foot required additional soft tissue release to help correct its mild residual varus deformity. The patient enjoyed excellent cosmetic and functional results. The possible pathogenesis of second toe varus deformity and its unexpected spontaneous correction is discussed.
CONCLUSION
The pathogenic deforming force of second toe varus deformity may originate from the first ray HV deformity complex. Consequently, the satisfactory anatomical correction of her HV deformity and also function restoration of the first ray by the syndesmosis procedure might have been the mechanism of spontaneous correction of the second toe varus deformity and its recurrence prevention.
PubMed: 30167411
DOI: 10.13107/jocr.2250-0685.1042 -
Journal of Foot and Ankle Research 2018Metatarsus adductus is the most common congenital foot deformity in newborns. It involves adduction of the metatarsals at the Lisfranc joint. A systematic literature... (Review)
Review
BACKGROUND
Metatarsus adductus is the most common congenital foot deformity in newborns. It involves adduction of the metatarsals at the Lisfranc joint. A systematic literature review was conducted to investigate the following question: What tools are used to identify and quantify metatarsus adductus and how reliable, valid and responsive are they?
METHODS
The following electronic databases were searched for studies describing tools for the identification and quantification of metatarsus adductus in adults and children published from inception to June 2016: Ovid MEDLINE, Embase, CINAHL, Scopus, Web of Science and AMED. Two researchers initially searched all articles by screening titles and abstracts. If there was any doubt as to an article's eligibility, the full text paper was retrieved. Reference lists and citations of all retained studies were examined in an attempt to locate further studies. Articles were excluded if they were not in English or described other congenital foot conditions that did not include metatarsus adductus. Studies included in the review reporting measurement properties of measurement tools were critically appraised using the Consensus-based Standards for the selection of health Measurement Instruments (COSMIN) critical appraisal tool.
RESULTS
There were 282 articles screened by title and abstract and 28 articles screened from full text. Fifteen articles were included and nine had data that were extractable for appraisal using the COSMIN critical appraisal tool. Techniques to measure metatarsus adductus included the heel bisector method, photocopies, ultrasound, footprints, dynamic foot pressure and radiographs. There was a paucity of quality data reporting the reliability, validity or responsiveness for measuring metatarsus adductus. Several radiographic angles showed good reliability (intraclass correlation (ICC) - 0.84, 0.97) in adults during pre-operative planning.
CONCLUSION
There have been multiple assessment techniques proposed for quantification of metatarsus adductus, but there is paucity of reliability, validity or responsiveness to measurement data about these techniques, especially in relation to the paediatric population. Further consideration of measurement testing is required to determine if the most common non-radiographic measures of metatarsus adductus are acceptable for clinical use.
Topics: Foot Deformities, Congenital; Humans; Metatarsal Bones; Metatarsus Varus; Observer Variation; Radiography; Reproducibility of Results
PubMed: 29881466
DOI: 10.1186/s13047-018-0268-z -
The Journal of Foot and Ankle Surgery :... 2018One of the main objectives of hallux valgus surgery is correction of the metatarsus primus varus deformity by osteotomy, arthrodesis, or soft tissue correction. The...
One of the main objectives of hallux valgus surgery is correction of the metatarsus primus varus deformity by osteotomy, arthrodesis, or soft tissue correction. The syndesmosis procedure uses intermetatarsal cerclage sutures to realign the first metatarsal and also induces a syndesmotic bonding between the first and second metatarsals to prevent metatarsus primus varus deformity recurrence. The purpose of the present study was to demonstrate radiologic evidence of the effectiveness of the syndesmosis concept and to identify the incidence and nature of deformity recurrence. A total of 55 feet from 60 consecutive procedures were followed regularly at 6 fixed points for 5 years. The radiologic inclusion criterion was a first intermetatarsal angle >9° or metatarsophalangeal angle >20°. The initial postoperative radiographs showed significant correction of the intermetatarsal angle from a preoperative average of 14.5° to 4.3° (p < .0001). It had increased to 7.0° during the first 6 postoperative months but remained within the normal upper limit of 9° and exhibited no further significant changes for the subsequent 4.5 years (p = .0792). Hallux valgus deformity correction also correlated with metatarsus primus varus deformity correction. Three (5%) second metatarsal stress fractures occurred, and all recovered uneventfully. In conclusion, we have report the findings from a detailed medium long-term follow-up study showing, to the best of our knowledge, for the first time that metatarsus primus varus and hallux valgus deformities can be effectively corrected and maintained using a specific surgical technique. Also included are 6 relevant radiographs and photographs of the included and excluded feet in the online Supplementary Material for reference.
Topics: Adult; Cohort Studies; Female; Follow-Up Studies; Hallux Valgus; Hallux Varus; Hong Kong; Humans; Male; Metatarsal Bones; Metatarsophalangeal Joint; Middle Aged; Osteotomy; Primary Prevention; Prospective Studies; Recurrence; Risk Assessment; Time Factors; Treatment Outcome
PubMed: 29336886
DOI: 10.1053/j.jfas.2017.10.012 -
Annals of Rehabilitation Medicine Jun 2017To develop and test the validity and reliability of a new instrument for measuring the thigh-foot angle (TFA) for the patients with in-toeing and out-toeing gait.
OBJECTIVE
To develop and test the validity and reliability of a new instrument for measuring the thigh-foot angle (TFA) for the patients with in-toeing and out-toeing gait.
METHODS
The new instrument (Thigh-Foot Supporter [TFS]) was developed by measuring the TFA during regular examination of the tibial torsional status. The study included 40 children who presented with in-toeing and out-toeing gaits. We took a picture of each case to measure photographic-TFA (P-TFA) in the proper position and to establish a criterion. Study participants were examined by three independent physicians (A, B, and C) who had one, three and ten years of experience in the field, respectively. Each examiner conducted a separate classical physical examination (CPE) of every participant using a gait goniometer followed by a TFA assessment of each pediatric patient with or without the TFS. Thirty minutes later, repeated in the same way was measured.
RESULTS
Less experienced examiner A showed significant differences between the TFA values depending on whether TFS used (left p=0.003 and right p=0.008). However, experienced examiners B and C did not show significant differences. Using TFS, less experienced examiner A showed a high validity and all examiner's inter-test and the inter-personal reliabilities increased.
CONCLUSION
TFS may increase validity and reliability in measuring tibial torsion in patients who has a rotational problem in lower extremities. It would be more useful in less experienced examiners.
PubMed: 28758082
DOI: 10.5535/arm.2017.41.3.441 -
EFORT Open Reviews Aug 2016Hallux valgus deformity is a very common pathological condition which commonly produces painful disability. It is characterised as a combined deformity with a...
Hallux valgus deformity is a very common pathological condition which commonly produces painful disability. It is characterised as a combined deformity with a malpositioning of the first metatarsophalangeal joint caused by a lateral deviation of the great toe and a medial deviation of the first metatarsal bone.Taking the patient's history and a thorough physical examination are important steps. Anteroposterior and lateral weight-bearing radiographs of the entire foot are crucial for adequate assessment in the treatment of hallux valgus.Non-operative treatment of the hallux valgus cannot correct the deformity. However, insoles and physiotherapy in combination with good footwear can help to control the symptoms.There are many operative techniques for hallux valgus correction. The decision on which surgical technique is used depends on the degree of deformity, the extent of degenerative changes of the first metatarsophalangeal joint and the shape and size of the metatarsal bone and phalangeal deviation. The role of stability of the first tarsometatarsal joint is controversial.Surgical techniques include the modified McBride procedure, distal metatarsal osteotomies, metatarsal shaft osteotomies, the Akin osteotomy, proximal metatarsal osteotomies, the modified Lapidus fusion and the hallux joint fusion. Recently, minimally invasive percutaneous techniques have gained importance and are currently being evaluated more scientifically.Hallux valgus correction is followed by corrective dressings of the great toe post-operatively. Depending on the procedure, partial or full weight-bearing in a post-operative shoe or cast immobilisation is advised. Post-operative radiographs are taken in regular intervals until osseous healing is achieved. Cite this article: Fraissler L, Konrads C, Hoberg M, Rudert M, Walcher M. Treatment of hallux valgus deformity. 2016;1:295-302. DOI: 10.1302/2058-5241.1.000005.
PubMed: 28660074
DOI: 10.1302/2058-5241.1.000005 -
The Journal of Foot and Ankle Surgery :... 2017Jones fractures are among the most common fractures of the foot; however, much remains unknown about their etiology. The purpose of the present study was to further...
Jones fractures are among the most common fractures of the foot; however, much remains unknown about their etiology. The purpose of the present study was to further examine the risk factors of forefoot and hindfoot alignment on Jones fractures using an epidemiologic study design. We used a retrospective, matched, case-control study design. Cases consisted of patients with acute, isolated Jones fractures confirmed on plain film radiographs seen at our institute from January 2009 to December 2013. Patients presenting with pain unrelated to metatarsal fractures served as controls. Controls were matched to cases by age (±2 years), gender, and year of presentation. Weightbearing foot radiographs were assessed for 13 angular relationships by a single rater. Conditional multivariable logistic regression was used to identify important risk factors. Fifty patients with acute Jones fractures and 200 controls were included. The only significant variables in the final multivariable model were the metatarsus adductus angle (odds ratio [OR] 1.16, 95% confidence interval [CI] 1.08 to 1.25) and fourth/fifth intermetatarsal angle (OR 0.69, 95% CI 0.57 to 0.83)-both measures of static forefoot adduction. The presence of metatarsus adductus (defined as >15°) on foot radiographs was associated with a 2.4 times greater risk of a Jones fracture (adjusted OR 2.4, 95% CI 1.2 to 4.8). We have concluded that the risk of Jones fracture increases with an adducted forefoot posture. In our population, which consisted primarily of patients presenting after a fall (10 of 50; 20%) or misstep/inversion injury (19 of 50; 38%), the hindfoot alignment appeared to be a less important factor.
Topics: Adult; Aged; Case-Control Studies; Female; Forefoot, Human; Fractures, Bone; Humans; Incidence; Logistic Models; Male; Metatarsal Bones; Metatarsus Varus; Middle Aged; Multivariate Analysis; Radiography; Retrospective Studies; Risk Assessment; Young Adult
PubMed: 28579126
DOI: 10.1053/j.jfas.2017.04.017 -
Journal of Orthopaedic Surgery (Hong... Jan 2017Metatarsus adductus (MA) is a common pediatric foot deformity. Current recommendations suggest observation until 4-6 months, then casting if the deformity persists.... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Metatarsus adductus (MA) is a common pediatric foot deformity. Current recommendations suggest observation until 4-6 months, then casting if the deformity persists. Based on our review of the literatures, no randomized controlled trial has been conducted to study the effectiveness of parental stretching in the correction of MA in newborn.
MATERIAL AND METHODS
Ninety-four newborn feet that were diagnosed as MA by clinical examination were enrolled. Feet were randomized into two groups: observation group and stretching group. Outcome measurements were performed to compare success rate between groups.
RESULTS
According to Pearson's χ test, there were no statistically significant differences between groups with regard to the overall success of the parental stretching program ( p = 0.191). There was also no significant difference between groups for mild degree or moderate-to-severe degree ( p = 0.134, p = 0.274, respectively). A more rapid success rate was observed in the stretching group at the first month follow-up, but rate of improvement then decreased. The stretching group tended to have a lower success rate compared to the observation group in moderate-to-severe feet, but the difference was not statistically significant.
CONCLUSIONS
Parental stretching program found no benefit over observation group in this study. Parental stretching program should not be applied for newborn babies with moderate-to-severe MA as the result from the study appeared to have lower success rate compared to observation group. Observe until 4-6 months, then corrective casting for the persisting deformity is recommended.
Topics: Female; Humans; Infant; Infant, Newborn; Male; Metatarsus Varus; Muscle Stretching Exercises; Parents; Time Factors; Treatment Outcome
PubMed: 28215117
DOI: 10.1177/2309499017690320 -
Techniques in Orthopaedics (Rockville,... Sep 2016Three-dimensional (3-D) printing offers many potential advantages in designing and manufacturing plating systems for foot and ankle procedures that involve small,...
Three-dimensional (3-D) printing offers many potential advantages in designing and manufacturing plating systems for foot and ankle procedures that involve small, geometrically complex bony anatomy. Here, we describe the design and clinical use of a Ti-6Al-4V ELI bone plate (FastForward™ Bone Tether Plate, MedShape, Inc., Atlanta, GA) manufactured through 3-D printing processes. The plate protects the second metatarsal when tethering suture tape between the first and second metatarsals and is a part of a new procedure that corrects hallux valgus (bunion) deformities without relying on doing an osteotomy or fusion procedure. The surgical technique and two clinical cases describing the use of this procedure with the 3-D printed bone plate are presented within.
PubMed: 28337049
DOI: 10.1097/BTO.0000000000000189