CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.
Humans ; Child ; Female ; Cerebellar Ataxia/diagnosis* ; Talipes Cavus ; Hearing Loss, Sensorineural/diagnosis* ; Optic Atrophy/diagnosis* ; Mutation ; Phenotype ; Sodium-Potassium-Exchanging ATPase/genetics* ; Foot Deformities, Congenital ; Reflex, Abnormal

INTRODUCTION: Congenital talipes equinovarus (CTEV), also called clubfoot, is one of the most common orthopedic congenital anomalies. However, there is no formal study of the condition here in the Philippines, and data is sparse regarding the epidemiology, treatment, and outcomes in similar third-world countries. METHODS: Retrospective review of data of clubfoot patients seen at the Philippine General Hospital (PGH) Clubfoot Clinic from 2006 up to the present. RESULTS: Records from 75 patients treated at the PGH Clubfoot Clinic from 2010-2016 were reviewed. Idiopathic clubfoot comprised 76% of the patients, while syndromic clubfoot comprised 24%. A good outcome of the Ponseti method was seen in 82% and 88% of the idiopathic and syndromic clubfoot patients, respectively. Idiopathic clubfoot cases that had good outcomes required an average of 11.84 casts to tenotomy or bracing, which was not statistically significant compared to 9.55 average sessions for syndromic clubfoot (p=0.21). The initial Pirani scores for both cases were not significantly different (p=0.95). Idiopathic cases with poor outcomes needed less casting sessions (4.45) because the decision to operate was made early. Age was not found to significantly affect the outcome of treatment for idiopathic clubfoot (p=0.20) and syndromic clubfoot (p=0.64). CONCLUSION: Ponseti casting was found to be effective in treating both idiopathic and syndromic clubfoot patients. The number of sessions did not differ significantly between the two.
Child ; Clubfoot ; Orthopedics ; Research Design

OBJECTIVE: This study aimed to quantitatively define outcomes of corrective surgery in children with various foot deformities. METHODS: We used a retrospective, nonrandomized design. All pediatric patients who underwent pre and post-operative gait analysis and corrective surgery were included. Outcome measures included quantitative gait analysis with temporospatial and kinematic parameters, the Gait Deviation Index, Gillette FAQ, and Hoffer’s criteria. RESULTS:. Five patients with neurogenic and idiopathic deformities underwent corrective surgery at the Philippine General Hospital from 2015 to 2017. Comparison of gait pre and postoperatively show promising outcomes, with improvement in GDI and FAQ levels, despite some of the patients’ need for braces. CONCLUSIONS: Quantitative gait analysis is a suitable method for evaluating surgical outcomes for foot deformity correction. It can be used in combination with functional outcome measures and clinical examination to give an overall picture of a patient’s walking ability.
Gait Analysis ; Clubfoot ; Gait ; Movement Disorders

OBJECTIVE: To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft. METHODS: Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation. RESULTS: SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes. CONCLUSION Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.
China ; DNA Copy Number Variations/genetics* ; Foot Deformities, Congenital/genetics* ; Hand Deformities, Congenital/genetics* ; Humans ; Pedigree

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation (SHFM). METHODS: Genomic DNA of the proband and other affected members was extracted from peripheral blood samples. Chromosomal microarray analysis was employed to detect genome-wide copy number variations (CNVs). RESULTS: A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals. The microduplication has involved four genes, namely LBX1, BTRC, POLL and DPCD, in addition with part of FBXW4 gene. CONCLUSION The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.
Asian Continental Ancestry Group ; Chromosome Duplication ; Chromosomes, Human, Pair 10 ; genetics ; DNA Copy Number Variations ; Foot Deformities, Congenital ; genetics ; Genetic Testing ; Hand Deformities, Congenital ; genetics ; Humans ; Limb Deformities, Congenital ; genetics ; Pedigree

PURPOSE: Several radiologic reference lines have been used to evaluate individuals with a clubfoot but there is no consensus as to which is most reliable. The aim of this study was to identify which radiologic parameters have relevance to the predictability of additional surgery after Ponseti casting on clubfoot and the effect of clubfoot treatments that contain Ponseti casting and additional surgery. MATERIALS AND METHODS: A total of 102 clubfeet (65 patients, 37 bilateral) were reviewed from 2005 to 2013. The patients were divided into two groups (Group A, those for whom the result of the Ponseti method was successful and did not require additional surgery; and Group B, those for whom the result of the Ponseti method was unsuccessful and required additional surgery), and the following parameters were measured on the plain radiographs: i) talo-calcaneal angle on the anteroposterior and lateral view, ii) talo-1st metatarsal angle on the anteroposterior view, and iii) Tibio-calcaneal angle on the lateral view with the ankle full-dorsiflexion state. Each radiograph was reviewed on two separate occasions by one orthopedic doctor to characterize the intra-observer reliability, and the averages were analyzed. Next, 20 cases were chosen using a random number table, and two orthopedic doctors measured the angle separately to characterize the inter-observer reliability. RESULTS: Groups A and B included 73 clubfeet (71.6%) and 29 clubfeet (28.4%), respectively. The initial talo-calcaneal angle and tibio-calcaneal angle in the lateral view were significantly different among the groups. In addition, inter- and intra-observer biases were not detected. The talo-1st metatarsal angle on the anteroposterior view and tibio-calcaneal angle on the lateral view were significantly different after treatment in both groups. CONCLUSION: Congenital clubfeet treated with the Ponseti method showed successful results in more than 70% of patients. The initial talo-calcaneal angle and tibio-calcaneal angle on the lateral view were the radiologic parameters that could predict the need for additional surgical treatments. The talo-1st metatarsal angle on the anteroposterior view and tibio-calcaneal angle on the lateral view could effectively evaluate the changes in clubfoot after treatment.
Ankle ; Bias (Epidemiology) ; Clubfoot ; Consensus ; Humans ; Metatarsal Bones ; Methods ; Orthopedics

OBJECTIVE: To detect potential mutation in a Chinese pedigree affected with split hand/split foot malformation (SHFM). METHODS: The patients were screened for genome-wide copy number variations with single nucleotide polymorphism (SNP) microarray. Copy number variations were verified by real-time fluorescence quantitative PCR. RESULTS: There were 3 SHFM patients from three generations, which conformed to an autosomal dominant inheritance. SNP microarray assay revealed that all patients have carried a 0.34 Mb duplication in 10q24.31-q24.32 (102 993 649-103 333 271) encompassing the BTRC and DPCD genes. The result was verified by real-time fluorescence quantitative PCR, confirming that the duplication has co-segregated with the SHFM phenotype in the pedigree. CONCLUSION The 10q24.31-q24.32 duplication probably underlies the pathogenesis of SHFM in this pedigree. Tiny copy number variations can result in diseases featuring autosomal dominant inheritance.
Asian Continental Ancestry Group ; China ; Chromosome Duplication ; Chromosomes, Human, Pair 10 ; genetics ; DNA Copy Number Variations ; Foot Deformities, Congenital ; genetics ; Hand Deformities, Congenital ; genetics ; Humans ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide

OBJECTIVETo explore the genetic basis for a patient with oculodentodigital dysplasia.

METHODSGenomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole-exome sequencing was carried out for the trio family. Suspected mutation was verified by Sanger sequencing.

RESULTSA de novo c.412G>A mutation of the GJA1 gene was identified in the patient, which was validated by Sanger sequencing.

CONCLUSIONThe c.412G>A mutation of the GJA1 gene probably underlies the disease in the patient.

Adult ; Connexin 43 ; genetics ; Craniofacial Abnormalities ; genetics ; Exome ; Eye Abnormalities ; genetics ; Foot Deformities, Congenital ; genetics ; Humans ; Male ; Mutation ; Sequence Analysis, DNA ; Syndactyly ; genetics ; Tooth Abnormalities ; genetics

OBJECTIVETo explore the genetic etiology of three families affected with split-hand/split-foot malformation (SHFM).

METHODSPeripheral venous blood samples from 21 members of pedigree 1, 2 members of pedigree 2, and 2 members of pedigree 3 were collected. PCR-Sanger sequencing, microarray chip, fluorescence in situ hybridization (FISH), real-time PCR, and next-generation sequencing were employed to screen the mutations in the 3 families. The effect of the identified mutations on the finger (toe) abnormality were also explored.

RESULTSMicroarray and real-time PCR analysis has identified a duplication in all patients from pedigrees 1 and 3, which have spanned FKSG40, TLX1, LBX1, BTRC, POLL and FBXW4 (exons 6-9) and LBX1, BTRC, POLL and FBXW4 (exons 6-9) genes, respectively. A missense mutation of the TP63 gene, namely c.692A>G (p.Tyr231Cys), was found in two patients from pedigree 2. FISH analysis of chromosome 10 showed that the rearrangement could fita tandem duplication model. However, next-generation sequencing did not identify the breakpoint.

CONCLUSIONThe genetic etiology for three families affected with SHFM have been identified, which has provideda basis for genetic counseling and guidance for reproduction.

Chromosomes, Human, Pair 10 ; genetics ; Female ; Foot Deformities, Congenital ; genetics ; Genetic Testing ; Hand Deformities, Congenital ; genetics ; Humans ; Limb Deformities, Congenital ; genetics ; Male ; Mutation ; genetics ; Pedigree

BACKGROUND: Syndactyly of the foot is the second most common congenital foot anomaly. In East Asia, however, no large case study has been reported regarding the clinical features of isolated foot syndactyly. In this study, we report a review of 118 patients during the last 25 years. METHODS: We conducted a chart review of patients who underwent surgical correction for foot syndactyly between January 1990 and December 2014. Operations were performed with a dorsal triangular flap and a full-thickness skin graft. The demographics of included patients and their clinical features were evaluated. Surgical outcomes and complications were analyzed. RESULTS: Among 118 patients with 194 webs (155 feet), 111 patients showed nonsyndromic cases and 7 patients showed syndromic cases. In 80 unilateral cases (72.1%), the second web was the most frequently involved (37.5%), followed by the fourth (30%), the first (15%), the third (15%), the first and second in combination (1.3%), and the second and third in combination (1.3%). Among 31 bilateral cases, 2 cases were asymmetric. Among the remaining 29 symmetric bilateral cases, the second web was the most frequently involved (45.2%), followed by the first (22.6%), and the fourth (6.5%). No specific postoperative complications were observed, except in the case of 1 patient (0.51%) who required a secondary operation to correct web creep. CONCLUSIONS: This retrospective clinical study of 118 patients with both unilateral and bilateral foot syndactyly revealed that the second web was the most frequently involved. In addition, complete division and tension-free wound closure with a full-thickness skin graft of sufficient size showed good postoperative results.
Clinical Study ; Demography* ; Far East ; Foot Deformities, Congenital ; Foot* ; Humans ; Postoperative Complications ; Retrospective Studies ; Skin ; Syndactyly* ; Transplants ; Wounds and Injuries