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https://www.readbyqxmd.com/read/29744100/bilateral-fibular-hemimelia-associated-with-hip-dislocation-and-femoral-head-necrosis
#1
Salahiddine Saghir, Hicham Bousbaa, Aomar Agadr
We describe a case of association of congenital bone abnormalities. It will allow clinicians to look systematically for other skeletal malformations and teach them how to evaluate these cases for the first time. This early screening will enable appropriate treatment to avoid complications and to preserve functional prognosis.
May 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29734759/trends-in-the-prevalences-of-selected-birth-defects-in-korea-2008%C3%A2-2014
#2
Jung-Keun Ko, Dirga Kumar Lamichhane, Hwan-Cheol Kim, Jong-Han Leem
Little information is available on the prevalences of birth defects in Korea. The aims of this study were to estimate recent prevalences of selected birth defects and to analyze the prevalence trends of these defects during the period from 2008 to 2014. Prevalences were calculated for 69 major birth defects using health insurance claim data obtained from the Korea National Health Insurance Service (NHIS). Prevalence rate ratios were calculated using Poisson regression to analyze trends over the 7-year study period...
May 5, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29733804/bilateral-dislocation-of-the-temporomandibular-joint-in-children
#3
REVIEW
Ludovic Sicard, Diane O'Hana, Roman Hossein Khonsari, Abdelkhaled Kaddour Brahim
PURPOSE: Bilateral nontraumatic temporomandibular joint (TMJ) dislocation is an acute situation that can lead to a chronic and recurrent condition. Few pediatric cases have been reported in the literature and no standardized care protocol has been established to date. MATERIALS AND METHODS: Two cases of chronic bilateral dislocation of the TMJ in young children are reported and their medical management is discussed based on data from the literature. RESULTS: ▪▪▪...
April 11, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29731280/-sandwich-deformity-in-klippel-feil-syndrome-a-full-spectrum-presentation-of-associated-craniovertebral-junction-abnormalities
#4
Yinglun Tian, Dongwei Fan, Nanfang Xu, Shenglin Wang
Klippel-Feil syndrome (KFS) is defined as congenital fusion of two or more cervical vertebrae resulting from a segmentation failure in the developing spine. According to Samartzis et al., the most commonly fused segments are found at C2/3 (74.1%) and C6/7 (70.4%). In patients with C2/3 fusion, especially when there is additional C1 occipitalization, several secondary anomalies including atlantoaxial dislocation (AAD), basilar invagination (BI), Chiari malformation, and syringomyelia can be identified. In this report, we present a case of a 12-year-old patient with C2/3 and occipitalization and a "Full-Spectrum" presentation of associated CVJ abnormalities including C0/1 fusion, AAD, BI, Chiari malformation, syringomyelia, myelopathy and cranial neuropathy received neurological decompression of the cervico-medullary junction by posterior reduction of the AAD and reconstruction of her CVJ using an unconventional hybrid construct due to a high-riding right vertebral artery in C2...
May 3, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29701850/safeguarding-the-anomalous-vertebral-artery-while-dissecting-drilling-and-instrumentation-of-c1-2-joint-for-congenital-atlantoaxial-dislocation-2-dimensional-operative-video
#5
Pravin Salunke, Sushanta K Sahoo
The pathology in congenital atlantoaxial instability is usually in C1-2 joints. Addressing the joints appears to be the most rationale approach. The joints are usually approached posteriorly, manipulated, and fused. Understanding the normal and abnormal anatomy is important. Normally, the third segment of the vertebral artery courses lateral to the C1-2 joint. However, in about 20% of the cases with complex congenital craniovertberal junction anomalies the artery crosses the joint posteriorly. The artery in such cases may be injured while joint manipulation and instrumentation with disastrous consequences...
April 26, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29666734/open-reduction-and-internal-fixation-of-a-proximal-femoral-shaft-fracture-in-a-patient-with-bilateral-congenital-hip-disease
#6
Stefania Kanata, Antonios Anastasiadis
We present a rare case of a femoral shaft fracture in a 74-year-old woman with a preexisting untreated bilateral congenital hip dislocation and with concomitant leg length discrepancy. Because of the marked deformity of the upper femur, a derivative of the congenital hip disease, an open reduction and internal fixation was performed, with the use of an anatomic femur plate originally designed for the treatment of periprosthetic fractures. The patient was treated successfully and returned to her previous status of activity...
2018: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29666733/clinical-results-of-total-hip-arthroplasty-in-two-patients-with-charcot-hip-joints-due-to-congenital-insensivity-to-pain-with-anhydrosis
#7
Daisuke Inoue, Tamon Kabata, Yoshitomo Kajino, Tadashi Taga, Takashi Yamamoto, Tomoharu Takagi, Takaaki Ohmori, Hiroyuki Tsuchiya
Traditionally, Charcot arthropathy has been considered an absolute contraindication for total hip arthroplasty (THA). However, some recent reports have shown that good short- to mid-term results can be achieved by improving the durability of the implant. This paper reports the mid- to long-term results of THA in two patients with Charcot hip joints caused by congenital insensivity to pain with anhydrosis. Both patients suffered multiple posterior dislocations in the six months immediately following surgery...
2018: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29653314/hemifacial-microsomia-oculo-auriculo-vertebral-spectrum-in-an-individual-from-the-teramo-sant-anna-archaeological-site-7th-12th-centuries-of-the-common-era-italy
#8
Joan Viciano, Ruggero D'Anastasio
BACKGROUND: This study is based in an analysis of the skeletal remains of an adult male from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Teramo, Italy). RESULTS AND DISCUSSION: The individual shows distinct abnormalities that principally involve asymmetric hypoplasia and dysmorphogenesis of the facial skeleton. The combination of these findings and the absence of abnormalities of the spine strongly suggest diagnosis of the congenital malformation known as hemifacial microsomia...
April 6, 2018: Archives of Oral Biology
https://www.readbyqxmd.com/read/29629541/clinical-and-pathologic-findings-of-korean-patients-with-ryr1-related-congenital-myopathy
#9
Ha Neul Jeong, Hyung Jun Park, Jung Hwan Lee, Ha Young Shin, Se Hoon Kim, Seung Min Kim, Young Chul Choi
BACKGROUND AND PURPOSE: This study was designed to investigate clinical and pathologic characteristics of five Korean patients with RYR1-related congenital myopathy (CM). METHODS: Five patients from unrelated families were diagnosed with RYR1-related CM via direct or targeted sequencing of RYR1. Their clinical, mutational, and pathologic findings were then analyzed. RESULTS: Seven different mutations were identified, including two novel mutations: c...
January 2018: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29573773/congenital-hip-dislocation-a-rare-case-in-adulthood
#10
Natália Ferreira, Marcelo Abreu, Armando Abreu
No abstract text is available yet for this article.
January 31, 2018: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/29561460/spinal-dysraphism-and-dislocated-hip-beware-of-anomalous-sciatic-nerve-through-ilium-a-case-report
#11
Amanda T Whitaker, James Kasser, Young-Jo Kim
RATIONALE: The sciatic nerve runs a predictable course combining L4-S3 nerve roots through the true pelvis and under the greater sciatic notch. There are reports of bony protuberances from the sacrum and ilium in cases of spinal dysraphism; however advanced imaging, treatment, or outcomes are not described. There are no cases with associated fibular hemimelia in the current literature. PATIENT CONCERNS: This is a 4-year-old girl with tethered cord, acetabular dysplasia with hip subluxation, congenital short femur, anterior cruciate ligament (ACL) deficiency, and fibular hemimelia with her sciatic nerve coursing through the ilium...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29548946/anomaly-related-pathological-atlantoaxial-displacement-in-pediatric-patients
#12
Olga M Pavlova, Sergey O Ryabykh, Alexander V Burcev, Alexander V Gubin
STUDY DESIGN: Case series, level 4 of evidence. OBJECTIVES: To analyze clinical and radiological features of pathological atlantoaxial displacement (PAAD) in pediatric patients. To compose treatment algorithm for anomaly-related PAAD. SUMMARY OF BACKGROUND DATA: Criteria of different types of PAAD and treatment algorithms have been widely reported in the literature, but difficulty applicable in patients with odontoid abnormalities, C2-C3 block, spina bifida C1 and children...
March 13, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29545218/management-issues-in-a-case-of-congenital-cv-junction-anomaly-with-aberrant-retropharyngeal-midline-course-of-bilateral-cervical-icas-at-c1-c2
#13
Narayanam Anantha Sai Kiran, Veldurti Ananta Kiran Kumar, Laxminadh Sivaraju, Valluri Anil Kumar, Chintakunta Rajesh Reddy, Amit Agrawal
BACKGROUND: Aberrant medial retropharyngeal prevertebral course of internal carotid arteries (ICAs) is extremely uncommon. In oropharyngeal surgeries like trans oral odontoidectomy (TOO) this unrecognized aberrant retropharyngeal course of ICAs can result in devastating complications secondary to inadvertent injury of ICAs. Authors describe this aberrant course of ICAs in a patient with craniovertebral junction (CVJ) anomaly with dysmorphic C1 lateral mass on one side and discuss in detail various management issues in this complex case...
March 12, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29514872/homozygous-chst11-mutation-in-chondrodysplasia-brachydactyly-overriding-digits-clino-symphalangism-and-synpolydactyly
#14
Rana Muhammad Kamran Shabbir, Gökhan Nalbant, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
BACKGROUND: Carbohydrate sulfotransferase 11 (CHST11) is a membrane protein of Golgi that catalyses the transfer of sulfate to position 4 of the N-acetylgalactosamine residues of chondroitin. Chondroitin sulfate is the predominant proteoglycan in cartilage, and its sulfation is important in the developing growth plate of cartilage. A homozygous deletion encompassing part of the gene and the embedded miRNA MIR3922 had been detected in a woman with hand/foot malformation and malignant lymphoproliferative disease...
March 7, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29509625/the-impact-of-specialty-on-cases-performed-during-hand-surgery-fellowship-training
#15
Jason Silvestre, Joseph Upton, Benjamin Chang, David R Steinberg
BACKGROUND: Hand surgery fellowship programs in the United States are predominately sponsored by departments or divisions of orthopaedic surgery or plastic surgery. This study compares the operative experiences of hand surgery fellows graduating from orthopaedic or plastic surgery hand surgery fellowships. METHODS: Operative case logs of 3 cohorts of hand surgery fellows graduating during the academic years of 2012-2013, 2013-2014, and 2014-2015 were analyzed. The median case volumes were compared by specialty via Mann-Whitney U tests...
March 7, 2018: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/29426441/surgical-outcomes-and-complications-of-sutured-scleral-fixated-intraocular-lenses-in-pediatric-eyes
#16
Parveen Sen, Vinay Kumar S, Pramod Bhende, Pukhraj Rishi, Ekta Rishi, Chetan Rao, Dhanashree Ratra, Pradeep Susvar, Sreelakshmi Kummamuri, Sufiyan Shaikh, Lingam Gopal
OBJECTIVE: To study the outcome and complications of sutured scleral fixated intraocular lenses (SSFIOL) in children. DESIGN: Retrospective study. SUBJECTS: A total of 279 eyes of 230 children who underwent SSFIOL at ≤18 years of age in a tertiary eye care centre in India. METHODS: Treatment-naive children having traumatic cataract or subluxated lens underwent a single-sitting lensectomy and pars plana vitrectomy (PPV), along with SSFIOL insertion...
February 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29423248/capsular-augmentation-in-colonna-arthroplasty-for-the-management-of-chronic-hip-dislocation
#17
Matthew Sloan, Atul F Kamath
Colonna capsular arthroplasty represents an option for the management of chronic hip dislocation in young patients with dysplasia. In the appropriate patient, modern capsular arthroplasty procedures may provide an opportunity for hip preservation in patients with preserved femoral head cartilage and not appropriate for total hip arthroplasty. Here, we review our experience with surgical dislocation of the hip and capsular arthroplasty in a 27-year-old female with congenital hip dysplasia and chronic superior hip dislocation...
January 2018: Journal of Hip Preservation Surgery
https://www.readbyqxmd.com/read/29416159/central-core-disease-with-scoliosis-for-congenital-hip-dislocation-surgery-an-anaesthetic-demur
#18
Vrushali C Ponde, Vinit Vinod Bedekar, Ashok N Johari, Shalin K Maheshwari
No abstract text is available yet for this article.
January 2018: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/29415617/sagittal-band-reconstruction-in-the-index-finger-using-a-modified-elson-technique
#19
Nobuyuki Takahashi, Kousuke Iba, Megumi Hanaka, Yasuhiro Ozasa, Kohei Kanaya, Toshihiko Yamashita
PURPOSE: The Elson technique is a rigid reconstruction method for a hypoplastic or absent sagittal band in the treatment of chronic extensor digitorum communis (EDC) tendon dislocation. We performed a modified procedure based on the Elson technique for reconstruction of the radial sagittal band in case involving the index finger. We investigated the postoperative outcomes of chronic EDC dislocation after treatment with the original and modified Elson technique. METHODS: We examined five fingers of five patients (2 males and 3 females) with a mean age of 41 years...
January 2018: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/29403587/ophthalmologic-findings-in-patients-with-neuro-metabolic-disorders
#20
Narjes Jafari, Karl Golnik, Mansoor Shahriari, Parvaneh Karimzadeh, Sayena Jabbehdari
Purpose: We aimed to present the ophthalmic manifestations of neuro-metabolic disorders. Methods: Patients who were diagnosed with neuro-metabolic disorders in the Neurology Department of Mofid Pediatric Hospital in Tehran, Iran, between 2004 and 2014 were included in this study. Disorders were confirmed using clinical findings, neuroimaging, laboratory data, and genomic analyses. All enrolled patients were assessed for ophthalmological abnormalities. Results: A total of 213 patients with 34 different neuro-metabolic disorders were included...
January 2018: Journal of Ophthalmic & Vision Research
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