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Talipes equinovarus

Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
V Lebese, C Aldous, H L Malherbe
BACKGROUND: The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date. OBJECTIVES: To ascertain the effectiveness of the current national CD surveillance system and its implementation. METHOD: A descriptive, retrospective study using an audit of the current database was undertaken to evaluate the number of notifications received, types of CDs reported and the quality of reporting across SA for data received from 2006 to 2014...
September 5, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
C S Paththinige, N D Sirisena, U G I U Kariyawasam, L P C Saman Kumara, V H W Dissanayake
A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4...
2016: Case Reports in Genetics
Somchit Jaruratanasirikul, Boonsin Tangtrakulwanich, Pornruedee Rachatawiriyakul, Hutcha Sriplung, Wannee Limpitikul, Pathikan Dissaneevate, Nattasit Khunnarakpong, Pongsak Tantichantakarun
This is the first population-based study in Thailand on the prevalence of congenital limb defects (CLD). Data were obtained from recently established birth defects registries in three southern Thailand provinces during 2009-2013. Entries in the birth defects registries included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following a prenatal diagnosis of fetal anomaly. The total of 186 393 births recorded included 424 CLD cases, giving an average prevalence of 2...
September 2016: Congenital Anomalies
Boris Groisman, Juan Gili, Lucas Giménez, Fernando Poletta, María Paz Bidondo, Pablo Barbero, Rosa Liascovich, Jorge López-Camelo
Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time. The aim of this study was to identify potential geographical clusters of specific selected congenital anomalies (CA) in Argentina. The cases were ascertained from 703,325 births, examined in 133 maternity hospitals in the 24 provinces of Argentina. We used the spatial scan statistic to determine areas of Argentina which had statistically significant elevations of prevalence...
August 19, 2016: Journal of Community Genetics
Pietro Persiani, Filippo Maria Ranaldi, Lorena Martini, Anna Zambrano, Mauro Celli, Patrizia D'Eufemia, Ciro Villani
BACKGROUND: Osteogenesis imperfecta (OI) is a rare congenital genetic osteodystrophy, which has a prevalence of 1:20,000. OI is caused by the mutation of the COL1A1/COL1A2 genes, leading to a deficit of quality and/or quantity in the synthesis of procollagen-α type 1. Seven different forms of diverse clinical entity have been classified by Sillence and Glorieux, although, recently, up to 11 forms characterized by different genetic mutations have been recognized. Patients with OI suffer from extreme bone fragility and osteoporosis, which often predisposes them to frequent fractures...
August 2016: Medicine (Baltimore)
Masaaki Sugawara, Fumiaki Oguma, Hiroyuki Hirahara
Loeys-Dietz syndrome( LDS) is a recently recognized autosomal dominant connective tissue disorder. Mutations in the genes encoding transforming growth factor-beta( TGF-β) receptor 1 and (2 TGFBR1, TGFBR2)have been associated with LDS. We report here 2 cases of LDS in childhood. Case 1 was a 10-year-old man, who had aneurysm of both the pulmonary trunk and the ascending aorta, associated with pulmonary and aortic valve insufficiency. Surgical repair was performed successfully at the age of 17. The aortic valve was replaced with a mechanical valve...
August 2016: Kyobu Geka. the Japanese Journal of Thoracic Surgery
Q L Guo, F Fu, R Li, X Y Jing, T Y Lei, J Han, X Yang, L Zhen, M Pan, C Liao
OBJECTIVE: To investigate the application of fetuses with talipes equinovarus(TE)using chromosomal microarray analysis(CMA)technology. METHODS: From May 2012 to June 2015, 54 fetuses were found with TE and with or without other structural anomalies by prenatal ultrasound. Karyotyping was taking for them all, and the fetuses with normal karyotypes took another CMA test. The data were analyzed with CHAS software. Finally all the cases were followed up to know about their pregnancy outcomes...
July 25, 2016: Zhonghua Fu Chan Ke za Zhi
Christian Sætersdal, Jonas M Fevang, John Asle Bjørlykke, Lars B Engesæter
PURPOSE: Despite few studies comparing Ponseti treatment and traditional treatment of clubfoot (talipes equinovarus), the Ponseti method is now accepted as standard treatment for this deformity. The Ponseti method was introduced in Norway in 2003 and the purpose of this multicenter-study was to compare the results of Ponseti treatment with the results of the previous treatment for clubfoot in Norway. METHODS: 90 children (134 clubfeet) treated with previous treatment (pre-Ponseti group), were compared to 115 Ponseti treated children (160 clubfeet) (Ponseti group)...
October 2016: Journal of Children's Orthopaedics
El Sayed Abd El-Halim Abdullah
INTRODUCTION: Abductor hallucies tenotomy sometimes necessary in treatment of clubfoot. MATERIAL AND METHODS: Thirty children (45 feet) of one day old up to six months presented with idiopathic clubfoot. Patients were treated using the technique of Ponseti combined by abductor hallucies tenotomy after serial casting. RESULTS: At a mean follow up period of 16.7 months, 43/45 feet were good (95%), 2/45 feet were bad (5%). The mean Pirani score at the final follow up was 1...
September 2016: Journal of Orthopaedics
Haiou Yang, Zhaojing Zheng, Haiqing Cai, Huimin Li, Xingchen Ye, Xiaoqing Zhang, Zhigang Wang, Qihua Fu
Congenital talipes equinovarus (CTEV) is one of the most common musculoskeletal disorders. Genetic factors have been suggested to be an important contributor to its pathogenesis. Some genes, including PITX1, TBX4, and RBM10, have been associated with CTEV. We aimed to determine the disease-causing mutations in Chinese patients with isolated CTEV. Genomic DNA was extracted from peripheral blood samples of a three-generation pedigree and 53 sporadic patients with CTEV. Whole-exome sequencing and Sanger sequencing were used to identify and validate disease-causing mutations, respectively...
October 2016: Human Genetics
Bi-Cheng Yong, Fu-Xing Xun, Lan-Juan Zhao, Hong-Wen Deng, Hong-Wen Xu
The genetic cause of idiopathic congenital talipes equinovarus (ICTEV) is largely unknown. We performed a systematic review to describe the findings from 21 studies that have examined the genetic variants related to ICTEV, and to evaluate the quality of reporting. We found that ICTEV was positively associated with Hox family genes, collagen family genes, GLI3, N-acetylation genes, T-box family genes, apoptotic pathway genes, and muscle contractile family genes. Negative and controversial results were also discussed, and several genes associated with ICTEV were identified...
2016: SpringerPlus
C-H Dong, Z-M Wang, X-L Zhao, A-M Wang
OBJECTIVE: Talipes equinovarus is traditionally viewed in the literature as a congenital disease. CASE REPORT: We present here a case of the acquired talipes equinovarus (clubfoot) in a young adult patient that has developed the following osteomyelitis. RESULTS: We have successfully corrected this condition by fibula extension and correction of foot and ankle deformity, using external fixation device. The treatment period has extended over three years and involved two operations...
June 2016: European Review for Medical and Pharmacological Sciences
Sebastian Schmitt, Anna C Peak, Gregor Berrsche, Wolfram Wenz
Foot deformities are found in several neurologic conditions, most typically, but not exclusively, Charcot-Marie-Tooth disease. Posttraumatic deformities and undercorrection or overcorrection of congenital talipes equinovarus are also encountered. A severely deformed foot that cannot fit into normal shoes presents a significant day-to-day challenge to the young and active patient. This article presents some basic principles for evaluating the deformity and a toolkit of procedures to deal with these complex cases...
June 2016: Foot and Ankle Clinics
Shaobin Lin, Jianzhu Wu, Zhiqiang Zhang, Yuanjun Ji, Qun Fang, Baojiang Chen, Yanmin Luo
OBJECTIVE: To analyze the correlation between atypical neurofibromatosis type 1(NF1) microdeletion and fetal phenotype. METHODS: Fetal blood sampling was carried out for a woman bearing a fetus with talipes equinovarus. G-banded karyotyping and single nucleotide polymorphism array (SNP-array) were performed on the fetal blood sample. Fluorescence in situ hybridization (FISH) was used to confirm the result of SNP array analysis. FISH assay was also carried out on peripheral blood specimens from the parents to ascertain the origin of mutation...
April 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Anne Pilotti, Katy Scharff
In France, one child in every 800 is born with talipes equinovarus. This congenital deformity of the foot prevents the flexion and extension of the ankle. Follow-up by a psychologist is essential during the care of a child with this condition, in parallel with functional rehabilitation by the masseur-physiotherapist.
March 2016: Soins. Pédiatrie, Puériculture
C Faldini, L Prosperi, F Traina, M Nanni, S Tesfaghiorghi, S Tsegay, M Yosief, C Pungetti, I Sanzarello
An Italian team of orthopaedic surgeons joined Eritrean colleagues to perform a clinical study in ambulating children affected by neglected idiopathic congenital talipes equinovarus (clubfoot). This study reports the surgical strategy as well as clinical outcomes, early complications and relapse at a mid-term follow-up. Four expeditions of 7 days were organized between 2012 and 2015 from Italy to the Halibet Hospital of Asmara in Eritrea. In each expedition were included two experienced surgeons, two assistants and one anaesthesiologist...
August 2016: Musculoskeletal Surgery
Donghua Xie, Tubao Yang, Zhiyu Liu, Hua Wang
OBJECTIVE: To describe the epidemiology of birth defects (BDs) in perinatal infants in Hunan Province, China, between 2005 and 2014. METHODS: The BD surveillance data of perinatal infants (for stillbirth, dead fetus or live birth between 28 weeks of gestation and 7 days after birth) were collected from 52 registered hospitals of Hunan between 2005 and 2014. The prevalence rates of BDs with 95% confidence interval (CI) and crude odds ratio (ORs) were calculated to examine the associations of infant gender, maternal age, and region (urban vs rural) with BDs...
2016: PloS One
Ramin Haj Zargar Bashi, Taghi Baghdadi, Mehdi Ramezan Shirazi, Reza Abdi, Hossein Aslani
Congenital talipes equinovarus may be the most common congenital orthopedic condition requiring treatment. Nonoperative treatment including different methods is generally accepted as the first step in the deformity correction. Ignacio Ponseti introduced his nonsurgical approach to the treatment of clubfoot in the early 1940s. The method is reportedly successful in treating clubfoot in patients up to 9 years of age. However, whether age at the beginning of treatment affects the rate of effective correction and relapse is unknown...
March 2016: Journal of Pediatric Orthopedics. Part B
Tomoki Kosho
Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Danlos syndrome (EDS) caused by recessive loss-of-function mutations in CHST14. The disorder has been independently termed "adducted thumb-clubfoot syndrome", "EDS, Kosho type", and "EDS, musculocontractural type". To date, 31 affected patients from 21 families have been described. Clinically, CHST14/D4ST1 deficiency is characterized by multiple congenital malformations (craniofacial features including large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin upper lip vermilion, small mouth, and micro-retrognathia; multiple congenital contractures including adduction-flexion contractures and talipes equinovarus as well as other visceral or ophthalmological malformations) and progressive multisystem fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; pneumothorax or pneumohemothorax; large subcutaneous hematomas; and diverticular perforation)...
February 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
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