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Congenital deformity

Satoshi Makita, Kenitiro Kaneko, Yasuyuki Ono, Hiroo Uchida
PURPOSE: We aimed to identify the risk factors for thoracic and spinal deformities following lung resection during childhood and to elucidate whether thoracoscopic surgery reduces the risk of complications after lung resection. METHODS: We retrospectively examined the medical records of all pediatric patients who underwent lung resection for congenital lung disease at our institution between 1989 and 2014. RESULTS: Seventy-four patients underwent lung resection during the study period and were followed-up...
October 25, 2016: Surgery Today
B Hohendorff, J Franke, C K Spies, L P Müller, C Ries
OBJECTIVE: Arthrodesis of the proximal interphalangeal joint of fingers in a functional and pain-free position. INDICATIONS: Primary and secondary osteoarthritis, traumatic joint destruction, posttraumatic malposition, instability, joint destruction due to infection, irreparable extensor and/or flexor tendon lesion, recurrent flexion deformity in Dupuytren's disease, arthritis (e. g., rheumatoid arthritis, psoriatic arthritis), failed resection arthroplasty, failed prosthesis, congenital disorder (e...
October 25, 2016: Operative Orthopädie und Traumatologie
Vivek S Chawathe, Anil K Gaur, Badrinath D Athani, Shefali Gupta
A 14-year-old boy reported with congenital deformity of the left lower limb, with gross shortening, hip and knee flexion deformities, ankle with equinus deformity, and polydactyly of the left foot. Radiologic examination showed proximal femoral focal deficiency, double fibula, and duplication of the tarsal bones, and a diagnosis of 'proximal femoral focal deficiency associated with fibular duplication and diplopodia with complete agenesis of tibia' was made. Such association of deformities is very rare and poses difficulties in rehabilitation of the case...
October 25, 2016: Journal of Pediatric Orthopedics. Part B
Mathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, Madeleine Joubert, Jean-Michel Liet, Laure Simon, Marie Vincent, Sébastien Küry, Pierre Boisseau, Sébastien Schmitt, Sandra Mercier, Claire Bénéteau, Catherine Larrose, Marianne Coste, Xénia Latypova, Yann Péréon, Jean-Marie Mussini, Stéphane Bézieau, Bertrand Isidor
Homozygous frameshift variants in CNTNAP1 have recently been reported in patients with arthrogryposis and abnormal axon myelination. In two brothers with severe congenital hypotonia and foot deformities, we identified compound heterozygous variants in CNTNAP1, reporting the first causative missense variant, p.(Cys323Arg). Motor nerve conductions were markedly decreased. Nerve microscopical lesions confirmed a severe hypomyelinating process and showed loss of attachment sites of the myelin loops on the axons, which could be a characteristic of Caspr loss-of-function...
October 26, 2016: European Journal of Human Genetics: EJHG
Jan L Bruse, Abbas Khushnood, Kristin McLeod, Giovanni Biglino, Maxime Sermesant, Xavier Pennec, Andrew M Taylor, Tain-Yen Hsia, Silvia Schievano
OBJECTIVES: Even after successful aortic coarctation repair, there remains a significant incidence of late systemic hypertension and other morbidities. Independently of residual obstruction, aortic arch morphology alone may affect cardiac function and outcome. We sought to uncover the relationship of arch 3-dimensional shape features with functional data obtained from cardiac magnetic resonance scans. METHODS: Three-dimensional aortic arch shape models of 53 patients (mean age, 22...
September 22, 2016: Journal of Thoracic and Cardiovascular Surgery
Guang-Hui Zhu, Hai-Bo Mei, Rong-Guo He, Yao-Xi Liu, Kun Liu, Jin Tang, Jiang-Yan Wu
BACKGROUND: The purpose of this study was to investigate the initial union rate, refracture rate and residual deformities of congenital pseudarthrosis of the tibia (CPT), using combined surgery including pseudarthrosis resection, intramedullary rodding, autogenous iliac bone grafting and Ilizarov's fixator, with a mean 5.2 years follow-up. METHODS: We retrospectively reviewed the records and diagrams of patients with Crawford type IV congenital pseudarthrosis of the tibia between February 2007 and March 2010...
October 22, 2016: BMC Musculoskeletal Disorders
Christina Huang Wright, Dorian Kusyk, William S Rosenberg, Jennifer A Sweet
Lymphangiomatosis is a rare congenital disorder that results in multiorgan system lymphatic invasion. Symptoms due to axial skeletal involvement can range from chronic bone pain to severe deformity resulting in radiculopathy, myelopathy, and even paralysis. The authors present a case of lymphangiomatosis of the clivus, C-1, and C-2, resulting in chronic pain. The patient was successfully treated with percutaneous transoral clivoplasty and vertebroplasty, without disease progression or return of symptoms at 2 years...
October 21, 2016: Journal of Neurosurgery. Spine
Ádám Berniczei-Roykó, Jan-Hendrik Tappe, Axel Krinner, Tomasz Gredes, András Végh, Katona Gábor, Kamila Linkowska-Świdzińska, Ute Ulrike Botzenhart
BACKGROUND Cleft defects are one of the most frequent birth-deformities of the orofacial region and they are commonly associated with anomalies of the tooth structure, size, shape, formation, eruption, and tooth number. The aim of our study was to evaluate the prevalence, distribution, and potential association of combined hypodontia in cleft-affected patients with regard to all types of teeth in both jaws in the permanent dentition. MATERIAL AND METHODS This retrospective radiographic analysis included patients with various types of clefts treated orthodontically in the Department of Orofacial Orthopedics and Orthodontics at Heim Pàl Children's Hospital, Budapest...
October 21, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Erika Roddy, Mohammad Diab
BACKGROUND CONTEXT: Short-term readmission rates are becoming widely utilized as a quality and performance metrics for hospitals. Data on unplanned short-term readmission after spine fusion for deformity in pædiatric patients is limited. PURPOSE: To characterize the rate and risk factors for short-term readmission after spine fusion for deformity in pædiatric patients. STUDY DESIGN: Retrospective cohort study PATIENT SAMPLE: State In-Patient Databases from NY, UT, NE, FL, NC (years 2006-2010) and CA (years 2006-2011)...
October 17, 2016: Spine Journal: Official Journal of the North American Spine Society
S L Huang, B Zhang, L S Chen, L Liang, X N Luo, Z M Lu, S Y Zhang
Objective: To report rare cases of congenital neck cutaneous sinus with an orifice near the sternoclavicular joint and to investigate their origins and managements. Methods: A total of ten patients with congenital neck cutaneous sinus having an orifice near the sternoclavicular joint treated in the Guangdong General Hospital from January 2010 to June 2015 were retrospectively analyzed. Results: There four boys and six girls, aging from 11 months to 96 months with an average of 33.4 months, and they had a common feature showing a congenital cutaneous sinus with an orifice near sternoclavicular joint...
October 7, 2016: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
John F Gamble, Dinesh J Kurian, Andrea G Udani, Nathaniel H Greene
We present a case of a 3-month-old female with Wolf-Hirschhorn syndrome (WHS) undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. WHS is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Microcephaly, micrognathia, and glossoptosis are common features in WHS patients and risk factors for a pediatric airway that is potentially difficult to intubate. We discuss anesthesia strategies for airway preparation and management in a WHS patient requiring general anesthesia with endotracheal intubation...
2016: Case Reports in Pediatrics
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
Jagdish C Mohan, Madhu Shukla, Vishwas Mohan, Arvind Sethi
Parachute mitral valve and Pacman heart (incomplete muscular ventricular septal defect) are rare congenital deformities usually reported in infants and children. Very few adult patients with these anomalies are reported but the association of the two has not been described. This report describes a 56-year-old male with exertional dyspnea who was detected to have moderately severe mitral regurgitation and mitral stenosis. Typical parachute deformity of the mitral valve with a reduced opening and common attachment of all the chordae to a single posteromedial papillary muscle was evident...
September 2016: Indian Heart Journal
Donald Nuss, Robert J Obermeyer, Robert E Kelly
Historically, pectus excavatum (PE) was reported to be congenital, but in our experience only 22% are noticed in the first decade of life. Thus far, genetic studies support an autosomal recessive heritability, which coincides with only 40% of our patients having some positive family history, but is also contradictory given a constant sex ratio of 4:1 in favor of males. This inconsistency may be explained by the effect of more than one pectus disease-associated allele. Once the deformity is noticed, it tends to progress slowly until puberty, when rapid progression is often seen...
September 2016: Annals of Cardiothoracic Surgery
Aran Kanagaratnam, Steven Phan, Vakhtang Tchantchaleishvilli, Kevin Phan
BACKGROUND: Pectus excavatum is the most common congenital chest wall deformity. The two most common surgical techniques for its correction are the modified Ravitch technique and the minimally invasive Nuss technique. Despite both procedures being used widely, data comparing them are scarce. METHODS: We conducted a systematic review and meta-analysis of comparative studies to evaluate these procedures. A systematic search of the literature was performed from six electronic databases...
September 2016: Annals of Cardiothoracic Surgery
Liang-Ze Zhang, Wei-Guo Ma, Shu-Geng Gao, Jie He
Unilateral absence of a pulmonary artery (UAPA) is a rare congenital cardiac malformation that is often associated with other cardiovascular deformities. Surgical repair of this rare condition is usually performed only on the abnormal lung. The occurrence of lung cancer in association with UAPA is even rarer and clinical experience is very limited. This report aims to describe a case of unilateral absence of right pulmonary artery that was complicated by primary carcinoma of the contralateral lung. A left lower lobectomy was performed despite the absence of the right pulmonary artery and repeated decreases in the arterial oxygen saturation (SaO2) were encountered intraoperatively...
September 2016: Journal of Thoracic Disease
Taoran Jiang, Yun Xie, Ming Zhu, Peijuan Zhao, Zhuxin Chen, Chen Cheng, Rulin Huang, Kai Liu, Qingfeng Li
BACKGROUND: Patients with congenital or acquired deformities always need fat graft at least twice to remodel facial contour. The purpose of this study was to objectively evaluate the outcomes of the first and second fat grafts for Romberg syndrome by using three-dimensional (3D) volumetric analysis. METHOD: A retrospective study was conducted using the medical records of 13 patients with Romberg disease who were treated with fat graft twice for facial filling. Patient and surgeon satisfactions were evaluated by comparing the preoperative and postoperative two-dimensional (2D) photographs...
July 2, 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
Cassio Eduardo Raposo-Amaral, Rafael Denadai, Enrico Ghizoni, Cesar Augusto Raposo-Amaral
BACKGROUND: Although craniofacial bone correction is the essential step in hypertelorbitism correction, the final result depends on the management of soft tissue deformities. The purpose of this study was to review our surgical strategies for soft tissue reconstruction in hypertelorbitism correction. METHODS: A retrospective study was performed of consecutive patients with hypertelorbitism, undergoing hypertelorbitism correction between 2007 and 2014. All aspects related to the craniofacial surgical procedures (number and type of procedures, outcomes, and complications) were verified through medical records, clinical photographs, and interviews with all patients...
October 6, 2016: Annals of Plastic Surgery
Alexander Kolb, Madeleine Willegger, Reinhard Schuh, Alexandra Kaider, Catharina Chiari, Reinhard Windhager
PURPOSE: Deformation of the talus in idiopathic congenital clubfeet is a known problem after treatment. However evidence on types of talus deformation and clinical relevance is rare. The aims of this study were first to define different types of talus deformation, and second, to evaluate the impact of these types on long-term results. METHODS: At a minimum follow-up of ten years 40 idiopathic clubfeet treated by a modified dorsomedial release were analyzed. Based on morphological appearance and the widened range of radius to length ratios (R/L-ratio) in treated clubfeet deformed tali were divided into two groups: tali with decreased R/L-ratios were classified as small-dome talus deformation (SD), tali with increased R/L-ratios were classified as flat-top talus deformation (FT)...
October 11, 2016: International Orthopaedics
Jacob Brenner, Ditza Rotenberg, Shami Jaakobi, Yehuda Stram, Merisol Guini-Rubinstein, Sofia Menasherov, Michel Bernstein, Yudith Yaakobovitch, Dan David, Samuel Perl
Viruses of the Simbu serogroup cause lesions to foetuses that are seen at birth and that correlate with the stage of pregnancy at which the dam first contracts the virus. The Simbu serogroup comprises arboviruses known to cause outbreaks of abnormal parturitions in domestic ruminants; these abnormalities include abortion, stillbirth, and congenitally deformed neonates. Simbu serogroup members include: Akabane virus (AKAV), Aino virus, Cache Valley virus, and Schmallenberg virus. Lately, dairy herds calf malformations have been observed in Europe, where there have been reports of clinical manifestations such as diarrhoea, fever, and reduced milk yield in adult lactating cows...
September 30, 2016: Veterinaria Italiana
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