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European Journal of Medical Genetics May 2024Larsen of La Réunion Island syndrome (LRS) is an autosomal recessive condition associated with multiple large joint dislocations, clubfeet, severe dwarfism, and...
Larsen of La Réunion Island syndrome (LRS) is an autosomal recessive condition associated with multiple large joint dislocations, clubfeet, severe dwarfism, and distinctive facial features. LRS is caused by a recurrent homozygous variant in B4GALT7 gene with a founder effect in La Réunion population. Proteoglycans (PG) that are a major component of the extracellular matrix, are composed of a core protein connected to a glycosaminoglycans side chain via a tetrasaccharide linker region. B4GALT7 encodes galactosyltransferase I, one of the enzymes involved in the biosynthesis of the linker region. Conditions caused by pathogenic biallelic variants in genes implicated in the synthesis of the tetrasaccharide linker of PG are known as linkeropathies. Prenatal features are rarely described in this group of chondrodysplasias. We present a series of 12 unpublished patients having LRS and describe the perinatal phenotype. All the patients had a prenatal growth restriction with brevity of limbs. The other features revealed by ultrasounds were increased nuchal translucency at 10-12 weeks of gestation (50 %), feet abnormalities (clubfeet or metatarsus varus) (25 %), dislocation affecting at least one large joint (elbow, knee, wrist) (25 %). Bilateral bowing of femora was noted for two fetuses. Fibular hypertrophy was noted for one fetus. Prenatal helical computed tomography (CT) performed in three pregnancies showed additional data such as bowing of the forearm bones, proximal radio-ulnar synostosis, or dislocation of large joints. Prenatal sonographic and helical CT findings led to the prenatal diagnosis of LRS in four patients. We confirm that the neonatal clinical picture of LRS has an important overlap with that reported in patients with B4GALT7 deficiency outside La Réunion Island and other linkeropathies. The core of the phenotypic spectrum combines low birth height, micromelia, hypermobility, dislocation of at least one large joint, facial features with prominent eyes, microstomia, depressed nasal bridge, and midface hypoplasia. Other clinical features include clubfeet (33%), bifid thumb in one patient, and cardiac abnormalities in two patients. Radiological findings include radio-ulnar synostosis (75%), metaphyseal flaring, precocious carpal ossification, and a Swedish key appearance of the proximal femora. Finally, we also report radiological features rarely described in B4GALT7-linkeropathies, including bowing of the femora and fibular hypertrophy. Our results confirm the phenotypic continuum of LRS within linkeropathies with some additional findings, including a high frequency of clubfeet usually described in B3GALT6-linkeropathies, the presence of congenital heart diseases usually described in B3GAT3-linkeropathies, and a high frequency of metaphyseal flaring usually reported in B3GALT6 or XITLT1-linkeropathies. This is the first study that describes the perinatal phenotype in a cohort of patients with LRS. This study can help improve the prenatal diagnosis of the linkeropathies and add this group of conditions to the differential diagnosis of chondrodysplasias with multiple dislocations. In view of the founder effect for LRS in La Réunion Island, this disease should be suspected in fetuses with growth restriction and micromelia. Thus in case of LOH which include B4GALT7 identified in SNP-array, we recommend performing a targeted Sanger sequencing for the recurrent mutation c.808C > T; p. (Arg270Cys).
PubMed: 38705458
DOI: 10.1016/j.ejmg.2024.104940 -
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 -
Clinical Orthopaedics and Related... Aug 2010The Scarf osteotomy was described as a technique to correct a metatarsus primus varus in primary hallux valgus surgery, but it is unclear whether the technique could...
BACKGROUND
The Scarf osteotomy was described as a technique to correct a metatarsus primus varus in primary hallux valgus surgery, but it is unclear whether the technique could correct recurrent hallux valgus when an initial procedure failed to provide any or an adequate lateral displacement of the metatarsal head.
QUESTIONS/PURPOSES
We asked whether the Scarf osteotomy could reduce pain, improve the AOFAS score, reduce the deformity, and prevent further recurrence when used as a revision procedure.
PATIENTS AND METHODS
Of 41 patients (45 feet) we treated for failed initial operations, we retrospectively reviewed 35 (39 feet) who underwent a Scarf osteotomy. We administered a VAS for pain and the AOFAS score preoperatively and postoperatively. Preoperative and postoperative radiographs were taken to assess the hallux valgus angle [HVA] and intermetatarsal angle [IMA]. The minimum followup was 24 months (mean, 42 months; range, 24-89 months).
RESULTS
The mean VAS for pain improved from 5.9 to 0.4 points. The mean AOFAS score improved from 56 to 90 points. The radiographic evaluation showed improvement of the mean HVA from 30 degrees to 8 degrees and improvement of the IMA from 13 degrees to 4 degrees. Complications included one asymptomatic recurrence with a 20 degrees -HVA, one overcorrection with a 3 degrees-varus deformity, and pain attributable to irritation caused by screws in five patients.
CONCLUSIONS
As a revision procedure the Scarf osteotomy clinically and radiographically corrected recurrent hallux valgus recurrence in most patients.
LEVEL OF EVIDENCE
Level IV, therapeutic study. See Guidelines for Authors for a complete description of levels of evidence.
Topics: Adult; Aged; Bone Malalignment; Female; Forefoot, Human; Hallux Valgus; Humans; Male; Metatarsal Bones; Middle Aged; Osteotomy; Pain; Pain Measurement; Radiography; Range of Motion, Articular; Reoperation; Retrospective Studies; Secondary Prevention; Treatment Outcome
PubMed: 20496024
DOI: 10.1007/s11999-010-1363-z -
The Journal of Bone and Joint Surgery.... Aug 2011We reviewed the outcome of distal chevron metatarsal osteotomy without tendon transfer in 19 consecutive patients (19 feet) with a hallux varus deformity following...
We reviewed the outcome of distal chevron metatarsal osteotomy without tendon transfer in 19 consecutive patients (19 feet) with a hallux varus deformity following surgery for hallux valgus. All patients underwent distal chevron metatarsal osteotomy with medial displacement and a medial closing wedge osteotomy along with a medial capsular release. The mean hallux valgus angle improved from -11.6° pre-operatively to 4.7° postoperatively, the mean first-second intermetatarsal angle improved from -0.3° to 3.3° and the distal metatarsal articular angle from 9.5° to 2.3° and the first metatarsophalangeal joints became congruent post-operatively in all 19 feet. The mean relative length ratio of the metatarsus decreased from 1.01 to 0.99 and the mean American Orthopaedic Foot and Ankle Society score improved from 77 to 95 points. In two patients the hallux varus recurred. One was symptom-free but the other remained symptomatic after a repeat distal chevron osteotomy. There were no other complications. We consider that distal chevron metatarsal osteotomy with a medial wedge osteotomy and medial capsular release is a useful procedure for the correction of hallux varus after surgery for hallux valgus.
Topics: Adult; Aged; Female; Hallux Valgus; Hallux Varus; Humans; Metatarsus; Middle Aged; Osteotomy; Patient Satisfaction; Prospective Studies; Radiography; Recurrence; Treatment Outcome; Young Adult
PubMed: 21768632
DOI: 10.1302/0301-620X.93B8.26430 -
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 -
Canadian Medical Association Journal Oct 1964Major foot deformities were analyzed using standardized radiographic drawings of the foot in weight-bearing. Specific criteria and a classification of foot deformities...
Major foot deformities were analyzed using standardized radiographic drawings of the foot in weight-bearing. Specific criteria and a classification of foot deformities by radiographic analysis are presented, utilizing "lining systems" related to the main bones of the hindfoot.The radiographic appearance of the foot is described and analyzed, as are the principal deformities such as varus and valgus heel and forefoot. The prefixes "talipes" and "pes" have been used to signify congenital and acquired deformities, respectively.Specific foot deformities, including talipes equinovarus (clubfoot), pes planovalgus (flatfoot), pes cavus, and metatarsus varus, are analyzed. This method can also be applied in the radiological analysis of any foot deformity.By using this technique, a brief, concise and simplified analysis of foot deformities is available to the student, general practitioner, and specialist.
Topics: Calcaneus; Clubfoot; Flatfoot; Foot; Foot Deformities; Foot Deformities, Acquired; Foot Deformities, Congenital; Foot Diseases; Humans; Metatarsal Bones; Metatarsus; Radiography
PubMed: 14217246
DOI: No ID Found -
The Pan African Medical Journal 2018In view of the multiplicity of the proposed techniques for hallux valgus correction, we recommend to evaluate scarf osteotomy associated or not with phalangeal osteotomy...
In view of the multiplicity of the proposed techniques for hallux valgus correction, we recommend to evaluate scarf osteotomy associated or not with phalangeal osteotomy and/or Weil osteotomy. We conducted a retrospective study of 29 patients, including a bilateral case, undergoing scarf osteotomy of the first ray with associated treatments in 80% of cases between 2011 and 2016. Results were analyzed on the basis of patients' satisfaction, Groulier index and radiological measurements. The overall Groulier score showed good objective assessment of the end results based on radiological and anatomical data influencing the end results in case of insufficient correction. The mean follow-up period was 3 years and 5 months. A significant reduction in phalangeal valgus (from 34.17% to 16.1%), in metatarsus varus (from 15.13% to 9.93%) and the distal metatarsal joint angle (17.63% to 12.73%) were obtained. Patients were satisfied and very satisfied in 83% of cases. Complications were dominated by hypocorrection in 13.3% of cases and no case of pseudarthrosis or of M1 head necrosis was reported. Our results are comparable to those reported in the literature. We particularly insist on the functional role of hallux valgus surgery that should be included in overall forefoot deformity correction. Scarf osteotomy requires rigorous technique. It gives reliable results, with limitations related to major deformities, especially of the distal metatarsal joint angle.
Topics: Adult; Female; Follow-Up Studies; Hallux Valgus; Humans; Male; Metatarsal Bones; Metatarsophalangeal Joint; Osteotomy; Patient Satisfaction; Postoperative Complications; Retrospective Studies; Treatment Outcome
PubMed: 31037208
DOI: 10.11604/pamj.2018.31.148.15993 -
Frontiers in Bioengineering and... 2020Hallux valgus is a common foot problem affecting nearly one in every four adults. Generalized ligament laxity was proposed as the intrinsic cause or risk factor toward...
Hallux valgus is a common foot problem affecting nearly one in every four adults. Generalized ligament laxity was proposed as the intrinsic cause or risk factor toward the development of the deformity which was difficult to be investigated by cohort clinical trials. Herein, we aimed to evaluate the isolated influence of generalized ligament laxity on the deterioration using computer simulation (finite element analysis). We reconstructed a computational foot model from a mild hallux valgus participant and conducted a gait analysis to drive the simulation of walking. Through parametric analysis, the stiffness of the ligaments was impoverished at different degrees to resemble different levels of generalized ligament laxity. Our simulation study reported that generalized ligament laxity deteriorated hallux valgus by impairing the load-bearing capacity of the first metatarsal, inducing higher deforming force, moment and malalignment at the first metatarsophalangeal joint. Besides, the deforming moment formed a deteriorating vicious cycle between hallux valgus and forefoot abduction and may result in secondary foot problems, such as flatfoot. However, the metatarsocuneiform joint did not show a worsening trend possibly due to the overriding forefoot abduction. Controlling the deforming load shall be prioritized over the correction of angles to mitigate deterioration or recurrence after surgery.
PubMed: 33015022
DOI: 10.3389/fbioe.2020.571192 -
Saudi Medical Journal Sep 2019To determine the rate of pediatric orthopedic clinic visits attributable to normal musculoskeletal (MSK) variations in children less than 12 years of age; to...
OBJECTIVES
To determine the rate of pediatric orthopedic clinic visits attributable to normal musculoskeletal (MSK) variations in children less than 12 years of age; to characterize the etiology and to characterize the etiology and management plan in this group in an attempt to identify areas that could be improved in pediatric orthopedic clinical practice.
METHODS
The study was a retrospective evaluation of 2,321 consecutive patients who visited a private pediatric orthopedic specialty clinic in Jeddah, Saudi Arabia between 2011-2016. All consultations were recorded in accordance with the standard protocol via data record form.
RESULTS
We identified 764 (32.9%) patients with normal variation of the lower limbs, age birth to 12 years old. No significant association between gender and normal variation was noticed. The following types of normal variation were registered: 189 (24.7 %) genu varus or valgus, 257 (33.6%) in-toe gait, and 318 (41.6%) flexible flat foot. Seven hundred and thirty-seven (96.5%) cases were normal variations, while only 27 cases (3.5%) were deemed pathological and required further treatment.
CONCLUSION
Normal variations represent the most common complaint in pediatric orthopedic private practice. Inappropriate referrals, useless follow-up visits, and excessive investigations were a common practice, overloading the health care system. None of the previous efforts made any notable improvement.
Topics: Ambulatory Care; Anatomic Variation; Child; Child, Preschool; Female; Flatfoot; Genu Valgum; Genu Varum; Humans; Infant; Male; Medical Overuse; Metatarsus Varus; Orthopedics; Prevalence; Referral and Consultation; Retrospective Studies; Saudi Arabia
PubMed: 31522221
DOI: 10.15537/smj.2019.9.24478 -
Zhongguo Xiu Fu Chong Jian Wai Ke Za... Nov 2018To evaluate the short-term effectiveness of Scarf osteotomy and Akin osteotomy combined with soft tissue procedures for hallux valgus associated with mild to moderate...
[Short-term effectiveness of Scarf osteotomy and Akin osteotomy combined with soft tissue procedures in treatment of hallux valgus associated with mild to moderate metatarsus adductus].
OBJECTIVE
To evaluate the short-term effectiveness of Scarf osteotomy and Akin osteotomy combined with soft tissue procedures for hallux valgus associated with mild to moderate metatarsus adductus.
METHODS
The clinical data of 30 patients (48 feet) who were diagnosised hallux valgus associated with mild to moderate metatarsus adductus and treated by Scarf osteotomy and Akin osteotomy combined with soft tissue procedures between February 2013 and May 2015 were analyzed retrospectively. There were 2 males (2 feet) and 28 females (46 feet) with an average age of 29.4 years (range, 18-50 years). The disease duration was 3-12 years (mean, 6.1 years). The degree of metatarsal adductus was assessed by Sgarlato's measurement and Yu classification criteria, and the degree of metatarsal adductus was mild in 20 feet and moderate in 28 feet. Preoperative X-ray examination showed that the hallux valgus angle (HVA) was (39.4±5.6)°, the first-second intermetatarsal angle (1-2IMA) was (15.2±3.5)°, the metatarsus adductus angle (MAA) was (21.2±3.7)°. The American Orthopaedic Foot and Ankle Society (AOFAS) score was 51.7±10.0, and visual analogue scale (VAS) score was 4.9±2.7 before operation. Postoperative complications and the union time of osteotomies were recorded. At last follow-up, the HVA, 1-2IMA, and MAA were measured on X-ray films, and the AOFAS scores and VAS scores were recorded, then compared them with preoperative ones. Roles - Maudsley score was used to investigate patients' satisfaction.
RESULTS
All the incisions healed by first intention. Thirty patients were followed up 24-27 months (mean, 26.4 months). Three patients (4 feet) occured metatarsalgia, and the pain relieved after treated by Custom-Made Orthotics. All the osteotomies were unoin, the healing time was 2-4 months (mean, 2.7 months). At last follow-up, the HVA and the 1-2IMA were (13.2±3.1)° and (5.1±2.3)°, respectively, showing significant differences when compared with preoperative ones ( =14.606, =0.000; =22.356, =0.000); the MAA was (21.0±3.4)° and there was no significant difference when compared with preoperative one ( =0.789, =0.434). The AOFAS and VAS scores were 91.8±7.5 and 1.1±1.0, respectively, showing signifiant differences when compared with preoperative ones ( =13.787, =0.000; =14.781, =0.000). Satisfaction survey showed that 28 patients were very satisfied and satisfied (93.3%), and 2 cases were not satisfied (6.7%).
CONCLUSION
The short-term effectiveness of Scarf osteotomy and Akin osteotomy combined with soft tissue procedures for hallux valgus associated with mild to moderate metatarsus adductus is satisfactory, and no correction is required for metatarsal adductus.
Topics: Adolescent; Adult; Female; Hallux Valgus; Humans; Male; Metatarsal Bones; Metatarsus Varus; Middle Aged; Osteotomy; Radiography; Retrospective Studies; Treatment Outcome; Young Adult
PubMed: 30417613
DOI: 10.7507/1002-1892.201804046