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

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

Adult ; Bone and Bones ; diagnostic imaging ; injuries ; Femoral Fractures ; surgery ; therapy ; Foot Deformities, Acquired ; diagnosis ; etiology ; therapy ; Fracture Fixation, Intramedullary ; adverse effects ; methods ; Fractures, Ununited ; diagnostic imaging ; etiology ; surgery ; Humans ; Intra-Articular Fractures ; diagnostic imaging ; surgery ; Male ; Radiography ; methods ; Reoperation ; methods ; Treatment Outcome

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.
Chin ; Cleft Palate ; Cryptorchidism ; Depression ; Facies ; Fetal Growth Retardation ; Foot Deformities ; Frontal Bone ; Hand ; Hearing Loss ; Hernia, Inguinal ; Humans ; Insulin Resistance ; Joints ; Lipodystrophy ; Male ; Micrognathism ; Parturition ; Skin ; Skull ; Specialization ; Tooth ; Tooth Eruption

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

PURPOSE: Pes planovalgus is one of the most common foot deformities among pediatric orthopedic diseases and is divided into idiopathic and neuromuscular planovalgus according to its etiology. This study evaluated the radiologic and pedobarographic outcomes of the treatment for pes planovalgus in children treated with lateral column lengthening, compared the outcomes according to the etiology, and investigated the correlation between the radiologic and pedobarographic findings. MATERIALS AND METHODS: Sixty-three patients (97 feet), who underwent lateral column lengthening, were divided into groups of 30 patients (47 feet) with neuromuscular disease and 33 patients (50 feet) with idiopathic etiology. The preoperative, immediately postoperative, 1 year, and 3 year follow-up radiographic measurements on the plain radiograph antero-posterior (AP) and lateral view were compared. In pedobarography, the foot pressures were subdivided into 4 areas to measure the contact time, contact area, peak pressure, and maximum force. The pre- and postoperative pedobarographic measurements were compared and the correlations between the radiographic and pedobarographic measurements were evaluated. RESULTS: The radiographic index at the 1st postoperative year and 3rd postoperative follow-up did not show significant differences according to the etiology. In pedobarography, idiopathic planovalgus showed a significant increase in the maximum force in the hindfoot and forefoot. The correlation between the radiologic findings and pedobarographic findings was statistically significant between the tibiocalcaneal angle in the lateral view and the maximum force, and the contact area of hindfoot on pedobarography, between tibiocalcaneal angle in the lateral view and the contact area of the toes in idiopathic planovalgus. In neuromuscular planovalgus, the peak pressure in the hindfoot had a strong negative correlation with talonavicular coverage angle in the AP view and talo-1st metatarsal angle, and the talohorizontal angle in the lateral view. CONCLUSION: Lateral column lengthening is an effective surgical procedure for flatfoot patients. On the other hand, the radiographic examination has limitations for accurate assessments of the postoperative results and prognosis. Qualitative and quantitative evaluations are available by pedobarography and it is a useful instrument for an evaluation of planovalgus when used in conjunction with radiography.
Child ; Evaluation Studies as Topic ; Flatfoot ; Follow-Up Studies ; Foot ; Foot Deformities ; Hand ; Humans ; Metatarsal Bones ; Neuromuscular Diseases ; Orthopedics ; Prognosis ; Radiography ; Toes

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

PURPOSE: Non-preaxial polydactyly of the hand refers to axial polysyndactyly involving the 2nd, 3rd, or 4th finger and postaxial polydactyly involving the 5th finger. It has a much lower incidence and a higher genetic penetrance than preaxial type. METHODS: Medical records of the patients who had operation for their polydactyly between July 1997 and July 2015 were retrospectively reviewed. The clinical data of the patients were investigated regarding demographics, clinical findings of the involved digits, foot involvement, and genetic penetrance. Through postoperative follow-up based on physical and radiologic examinations, we assessed functional and aesthetic outcomes, postoperative complications, and reoperation rate. RESULTS: Twenty-four patients (17 males and 7 females) underwent surgery for non-preaxial polydactyly of the hand. There were 15 postaxial type polydactyly, and 9 axial type polysyndactyly. Thirteen patients had bilateral involvement (54.2%), while 5 patients (20.8%) were right-sided and 6 patients (25%) were left-sided. In the axial type, 4th finger was the most frequently involved in 8 patients, followed by the 3rd finger in 1 patient. Thirteen patients (54.2%) had concurrent congenital foot anomalies. One patient (4.2%) had a family history of congenital hand anomaly. Patients with axial type polysyndactyly had poorer postoperative outcome than those with postaxial type, regarding reoperation rate. CONCLUSION: Non-preaxial polydactyly is a very rare congenital hand anomaly and the surgical outcome is not always promising especially in the axial type. Therefore, it is necessary to provide a sufficient preoperative counseling and to perform a meticulous surgery.
Counseling ; Demography ; Fingers ; Follow-Up Studies ; Foot ; Hand Deformities ; Hand* ; Humans ; Incidence ; Male ; Medical Records ; Penetrance ; Polydactyly* ; Postoperative Complications ; Reoperation ; Retrospective Studies ; Syndactyly*

OBJECTIVE: To see how people think about their own feet, and evaluate whether there are correlations among self-awareness of the participants and clinical examination findings. METHODS: Adult twins and their families who participated in the Healthy Twin study from May 2008 to April 2010 were recruited. Participants were asked whether they thought their feet were normal, flat, or cavus. The lateral talometatarsal angles were measured on foot X-rays to determine the foot arch height. Using the podoscopic footprints taken with the podobaroscope, the Staheli arch index was also measured. Kappa statistics were used to calculate degree of agreement among the three measurement methods. RESULTS: Self-awareness and radiographic findings were significantly different (Pearson chi-square test, p=0.000) and only slightly agreed (kappa measure of agreement=0.136, p=0.000). Self-awareness and podoscopy results revealed a significant difference (Pearson chi-square test, p=0.000), with only slight agreement (kappa measure of agreement=0.072, p=0.000). CONCLUSION: There is significant disagreement between patients' perception of their feet and actual test results. Many people may have an incorrect assumption about their own foot conditions that may be reflected in improper management. Dissemination of accurate information about foot disorders by foot clinicians would be helpful.
Adult ; Flatfoot ; Foot Deformities ; Foot* ; Humans ; Twins