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Mazziotti Silvio S Professor, Department of Biomedical Sciences and Morphological and Functional Imaging, University of Messina, Policlinico "G. Martino", Messina, - - 2014
Nablus mask-like facial syndrome (NMLFS) is a rare microdeletion syndrome characterized by a mask-like facial appearance. NMLFS has been reported in only 6 patients and has a recognizable facial appearance, along with other clinical features. The first case of NMLFS has been described by Teebi in 2000, in a 4-year-old ...
Kessel Aharon A Bnai-Zion Medical Center, Faculty of Medicine, Technion-Haifa, - - 2014
Non-syphilitic keratitis, coexisting with vestiboloauditory symptoms namely hearing loss and dizziness was first reported by Morgan and Baumgartner back in 1934. It was then ten years later when D.G Cogan, an ophthalmologist (1908-1993) described 4 patients having the same symptoms but in addition, attacks of vertigo, tinnitus, hearing loss and ...
Tanaka Teppei T Department of Neurosurgery, Fujita-Health University School of - - 2014
The vascular type of Ehlers-Danlos syndrome (vEDS) is an autosomal dominant hereditary disease characterized by connective tissue fragility throughout the body, including the arteries, viscera, and gastrointestinal tract. We report a case in which we performed transvenous embolization (TVE) via direct superior ophthalmic vein (SOV) approach to treat a direct ...
van Beelen E E Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University, Nijmegen, The - - 2014
We present the case of a Dutch family with a new mutation (c523_528dup) in GATA3 causing HDR syndrome. HDR syndrome is characterised by hypoparathyroidism, deafness and renal defects. In this study, we describe the audiometric characteristics of 5 patients from this family. Their hearing impairment was congenital, bilateral and symmetric. ...
Withana Milinda M National Hospital, University Medical Unit, Colombo, Sri - - 2014
Hump-nosed viper bites are frequent in southern India and Sri Lanka. However, the published literature on this snakebite is limited and its venom composition is not well characterized. In this case, we report a patient with thrombotic thrombocytopenic purpura-like syndrome following envenoming which, to the best of our knowledge, has ...
Mohebi-Nejad Azin A Nephrology Research Center, Tehran University of Medical Sciences, Tehran, Iran. - - 2014
Sagliker syndrome was introduced in 2004 in patients with end-stage renal disease and severe secondary hyperparathyroidism. This syndrome describes maxillary and mandibular deformities, dental abnormalities, benign soft tissue tumors in mouth, and various kinds of skeletal changes including short stature and fingertip abnormalities. There are a few reports from different ...
Drozniewska Malgorzata M Department of Clinical Genetics, Collegium Medicum Nicolaus Copernicus University, Skłodowskiej-Curie 9, 85-094 Bydgoszcz, Poland ; West Midlands Genetics Laboratories, Birmingham Women's Hospital NHS Foundation Trust, Edgbaston, B15 2TG Birmingham, - - 2014
Deletions of the PAX3 gene have been rarely reported in the literature. Mutations of this gene are a common cause of Waardenburg syndrome type 1 and 3. We report a 16 year old female presenting hearing loss and normal intellectual development, without major features of Waardenburg syndrome type 1, and without ...
Ogier Jacqueline M JM Murdoch Childrens Research Institute, Parkville, Victoria, - - 2014
CHARGE syndrome is a rare human disorder caused by mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7). Characteristics of CHARGE are varied and include developmental ear and hearing anomalies. Here we report a novel mouse model of CHD7 dysfunction, termed Looper. The Looper strain harbours a ...
Hagr Abdulrahman Abdullah AA Dr. Abdulrahman Abdullah Hagr, ORL, King Agbdulaziz University Hospital,, PO Box 245, Riyadh 11411,, Saudi Arabia, T: +966505216261, F: +966114775735 - - 2014
Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and bilateral sensorineural deafness, responding in varying degrees to thiamine treatment. We report a precedence case for the treatment of deafness associated with the typical triad of thiamine-responsive megaloblastic anemia in ...
Umeda Masataka M Department of Rheumatology, Graduate School of Biomedical Sciences, Nagasaki University, - - 2014
We herein describe a 71-year-old woman with adult-onset Still's disease (AOSD) who developed fever, myalgia, and pancytopenia. The bone marrow aspiration and muscle biopsy revealed hemophagocytic syndrome (HPS) and inflammatory myopathy with abundant macrophages (IMAM). Immunostained specimens were positive for expression of retinoic acid-inducible gene-I (RIG-I), which recognizes viral RNA ...
Diwan A G - - 2014
Macrophage activation syndrome is a potentially life threatening phenomenon characterised by aggressive proliferation of macrophages and T lymphocytes leading to haemophagocytosis of other blood cells and multi organ failure. Here we present a very unusual combination of leptospirosis and scrub typhus infection leading to macrophage activation syndrome. Scrub typhus associated ...
Załęska Jolanta J - - 2014
Patients with cardiovascular symptoms are mainly diagnosed in cardiological wards. However, sometimes the other reasons for acute coronary syndrome and heart failure are found. One of such reasons is hypereosinophilia which can be recognized if number of blood eosinophils exceeds 1500/mm3. High eosinophilia is connected with production of cytotoxic eosinophilic ...
Stein Juergen J Department of Internal Medicine, Krankenhaus Sachsenhausen, Frankfurt/Main, - - 2014
Melkersson-Rosenthal syndrome (MRS) is a rare granulomatous inflammatory disease characterised by the triad of orofacial oedema, facial nerve palsy and furrowed tongue. We describe the case of a 29-year-old patient suffering from an oligosymptomatic form of the disease with orofacial oedema, cobblestone pattern on the buccal mucosa and swelling of ...
Sugimoto Keisuke K Department of Pediatrics, Kinki University Faculty of Medicine, 377-2 Ohno-higashi, Osaka-Sayama 589-8511, - - 2014
Cogan syndrome is a systemic disease manifesting interstitial keratitis, sensorineural hearing loss, tinnitus, and rotatory vertigo. Renal complications of this syndrome are very rare. We encountered an adolescent with Cogan syndrome complicated by aortitis and anti-neutrophil cytoplasmic antibody (ANCA)-associated glomerulonephritis. At the age of 14, the patient showed proteinuria in ...
da Fonseca Lucas José Sá LJ Laboratório de Reatividade Cardiovascular, Setor de Fisiologia e Farmacologia, Instituto de Ciências Biológicas e da Saúde (ICBS), Universidade Federal de Alagoas (UFAL), Avenida Lourival Melo Mota, s/n, Cidade Universitária, 57072-900 Maceió, AL, - - 2014
The present study evaluated the cardiometabolic and redox balance profiles in patients with Metabolic Syndrome compared to apparently healthy individuals, and the participation of the myeloperoxidase/hydrogen peroxide axis in systemic lipid peroxidation. Twenty-four patients with Metabolic Syndrome and eighteen controls underwent a full clinical assessment. Venous blood samples were collected ...
Ghosh Soumik S Department of Medicine, PGIMER, Dr Ram Manohar Lohia Hospital, New Delhi, - - 2014
Alport syndrome (AS) is a heterogeneous basement membrane disease characterised by haematuria with progressive hereditary nephritis, high-frequency sensorineural hearing loss (SNHL) and pathognomonic ocular lesions. It is one of the spectra of diseases representing hereditary nephritis, which inevitably leads to end-stage renal disease (ESRD). Microscopic or frank haematuria persistent from ...
Bogusiak Katarzyna K From the Departments of *Craniomaxillofacial and Oncological Surgery and †Maxillofacial Surgery, Medical University of Łódź, Łódź, - - 2014
Goldenhar syndrome is a rare congenital defect characterized by ocular symptoms including (epibulbar dermoids, microphthalmia, anophthalmia, eyes asymmetry/dysmorphy, cleft eyelid, exophthalmia, strabismus), auricular symptoms (dacryocystitis), preauricular appendages, preauricular fistulas, ear asymmetry, microtia, atresia of the external auditory canal), craniofacial deformities (cleft face, cleft lip, cleft palate, macrostomia, bifid tongue, hypoplasia ...
Azami Ahad A Department of Internal Medicine, Imam Khomeini Hospital, Ardabil University of Medical Sciences, Ardabil, - - 2014
Cogan's syndrome (CS) is a chronic inflammatory disorder of unknown etiology that most commonly affects young adults. Clinical hallmarks are bilateral interstitial keratitis and vestibuloauditory dysfunction. Association between CS and systemic vasculitis as well as aortitis also exists. The diagnosis of CS is based upon presence of characteristic inflammatory eye ...
Fuchs Jennifer C - - 2014
[This corrects the article on p. e80104 in vol. 8.].
Yamaguchi Noboru N 0000-0002-2506-8373 Section of Pediatric Dentistry, Division of Oral Health, Growth and Development, Faculty of Dental Science, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, - - 2014
First branchial arch syndrome is a congenital disorder characterized by a wide spectrum of anomalies in the first branchial arch, mainly affecting the lower jaw, ear, or mouth, during early embryonic development. We sought to confirm a suspected case of this syndrome by making differential diagnosis and taking an intensive ...
James Olutayo - - 2014
Background: Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits and is caused by mutations in interferon regulatory factor six gene. It is reported to be the most common syndromic cleft world-wide. Non-penetrance for the lip pit phenotype ...
Deshmukh Pallavi K PK Department of Oral Medicine and Radiology, H.K.E.S.'s S. N. Institute of Dental Sciences and Research, Gulbarga, Karnataka 585103, - - 2014
Van der Woude syndrome (VWS) is a rare autosomal dominant condition with high penetrance and variable expression. Clinical manifestation of this autosomal dominant clefting syndrome includes bilateral midline lower lip pits, cleft lip, and cleft palate along with hypodontia. These congenital lip pits appear as a malformation in the vermilion ...
Hoefsloot L H LH Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, the - - 2013
Hearing impairment is an extremely heterogeneous disorder, with both environmental as well as genetic causes. This review describes the known genes involved in non-syndromic hearing impairment and their genotype-phenotype correlations where possible. Furthermore, some of the more frequent syndromic forms of hearing impairment are described, in particular where they overlap ...
Hadipour Fatemeh F Department of Medical Genetics, Sarem Cell Research Center & Hospital, Tehran, Iran. - - 2013
49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis,cryptorchidism and skeletal anomalies. We reported a 10 month-old boy who has hypotonia, microcephaly,hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate,down set ears, micrognathia and congenital heart disease such as patent ductus ...
Marlin Sandrine - - 2013
Kallmann syndrome (KS) usually combines an anosmia and a hypogonadotrophic hypogonadism. Hearing impairment was described in a few cases of KS. Our objective is to describe an unusual presentation of KS in 2 cases and to explore the pattern of inheritance in this family. Two brothers presented with a sensorineural ...
Allmendinger Andrew M - - 2013
Susac's syndrome is a rare autoimmune microangiopathy characterized by the clinical triad of encephalopathy, branch retinal artery occlusions, and sensorineural hearing loss. In many cases, the clinical triad is not fully present at the onset of symptoms. MRI studies often show characteristic punched out lesions of the central fibers of ...
Nikkhah Dariush D East Grinstead and London, United Kingdom From East Grinstead Hospital; Great Ormond Street Hospital; and University College - - 2013
Treacher-Collins syndrome is a rare autosomal dominant condition of varying phenotypic expression. The surgical correction in this syndrome is difficult, and the approach varies between craniofacial departments worldwide. The authors aimed to design standardized tools for planning orbitozygomatic and mandibular reconstruction in Treacher-Collins syndrome using geometric morphometrics. The Great Ormond ...
Owen Christopher - - 2013
A 21 year-old young lady was referred to ophthalmology with visual disturbance in the right eye. Two weeks prior she had nausea and vertigo and was thought to have an ear infection. She then suffered from right sided hearing loss, tinnitus, sickness, frontal headaches and a few days later awoke ...
Tangade Pradeep - - 2013
Supernumerary teeth are developmental anomaly. There are various theories explaining their occurrence. Maxilla is more commonly affected and males have higher predilection than females for having supernumerary teeth. The present case is presented with three permanent central incisors, all of them with normal morphology. On clinical and radiographic examination, it ...
Uğurlu Kemal - - 2013
The oromandibular limb hypogenesis syndrome is a group of anomalies affecting the mandible, tongue, and maxilla with or without reductive limb anomalies. It was first described by Hanhart in 1950. In severe syndromic cases of mandibular hypoplasia, a number of techniques have been described for mandibular advancement including sagittal split ...
Nomura Naohiro - - 2013
Mutations of BSND, which encodes barttin, cause Bartter syndrome type IV. This disease is characterized by salt and fluid loss, hypokalemia, metabolic alkalosis, and sensorineural hearing impairment. Barttin is the β-subunit of the ClC-K chloride channel, which recruits it to the plasma membranes, and the ClC-K/barttin complex contributes to transepithelial ...
White Alison S AS Institute of Clinical Neuroscience, Royal Prince Alfred Hospital, Central Clinical School, University of Sydney, Missenden Road, Camperdown, NSW 2050, - - 2013
Prolonged acute spontaneous vertigo can be secondary to acute vestibular neuritis or posterior circulation ischaemia. We present a 66-year-old man who first developed an acute vestibular syndrome with profound unilateral hearing loss 34years ago. First treated as vestibular neuritis, he subsequently developed manifestations of Behçet's disease, including mouth ulcers, genital ...
Venkateshwaran Subramanian - - 2013
An eight-year-old girl was evaluated for unexplained cyanosis. A contrast echo was suggestive of pulmonary arteriovenous fistula. Further evaluation revealed Abernethy malformation (type 2) leading to hepatopulmonary syndrome. Percutaneous device closure of Abernethy malformation was done after anatomical and physiological evaluation of the portal circulation. Prior to closure, it is ...
McDonnell Robert - - 2013
Objective: To describe the epidemiology of orofacial clefts in the east of Ireland. Design and Setting: A descriptive epidemiologic study on 851 cases of orofacial cleft identified over a 25-year period from 1984 to 2008 from more than 500,000 births. Results: There were 438 (51.5%) cases of cleft lip with ...
Sakamoto Yoshiaki - - 2013
Monobloc and Le Fort III distractions can improve midfacial hypoplasia, a characteristic feature of syndromic craniosynostosis. The purpose of treating midfacial hypoplasia is to improve exophthalmos and dental occlusion. Typically, in Le Fort III or monobloc distractions, the midface is mobilized en bloc, and the extent and direction of the ...
Haskins Angela - - 2013
The advent of cochlear implantation has been followed by an explosion in surgical and technological advances with subsequent alterations in the treatment of sensorineural hearing loss management. Many individuals with rare genetic abnormalities who once may have not been considered candidates for cochlear implantation are now benefiting from cochlear implantation. ...
Clouthier David E - - 2013
Among human birth defect syndromes, malformations affecting the face are perhaps the most striking due to cultural and psychological expectations of facial shape. One such syndrome is auriculocondylar syndrome (ACS), in which patients present with defects in ear and mandible development. Affected structures arise from cranial neural crest cells, a ...
Chouery Eliane - - 2013
CDAGS syndrome is an autosomal recessive syndrome characterized by craniosynostosis, large open fontanelles, hearing loss, anal anomalies, genitourinary malformations and porokeratosis. To our knowledge, only four families from different geographic regions and ethnic backgrounds have been reported until now and no molecular defect has been identified. Here we report two ...
Pol Chetan A CA Department of Oral Pathology and Microbiology, Government Dental College and Hospital, Nagpur, Maharashtra, - - 2013
Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement ...
Singhvi Vijay V Departments of Orthodontics and Dentofacial Orthopaedics, Manipal College of Dental Sciences, Mangalore, Karnataka, - - 2013
Hyperdontia amounts to an odontostomatologic anomaly wherein, there is an increase in tooth number irrespective of the location. This case report represents a form of hyperdontia characterized by bilateral multiple supernumerary teeth in both the jaws without any evident familial history.
Kumar Nilay N Department of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294-0012 - - 2014
To present a case of human monocytic ehrlichiosis (HME) that was complicated by macrophage activation syndrome (MAS), also known as secondary hemophagocytic lymphohistiocytosis (sHLH). Data was collected from patient's electronic medical records at the University of Alabama at Birmingham. The patient is a part of a larger cohort of patients ...
Reitsma Jacobus H - - 2013
Purpose:   Developing teeth are used to assess maturity and estimate age in a number of disciplines. The purpose of this investigation was to study the dental maturation in children with Crouzon or Apert syndrome compared with nonsyndromic controls. Patients and Methods:   Records of 40 children with Crouzon syndrome ...
Gaudreau Philip - - 2013
Soto's syndrome is a genetic disorder caused by mutations in the NSD1 gene. It is characterized by excessive growth in early life. It features craniofacial abnormalities, developmental delay, hypotonia and advanced bone age. A review of the current literature reveals only chronic otitis media and conductive hearing loss as otolaryngologic ...
Gupta Shalini R - - 2013
Hajdu-Cheney syndrome is a very rare, inherited, autosomal dominant, skeletal dysplasia associated with characteristic craniofacial and dental features, primary acroosteolysis of the terminal phalanges and generalized osteoporosis. A 37-year-old male patient presented with features of osteomyelitis of the right mandible and typical features of Hajdu-Cheney syndrome. The patient also had ...
Dikoglu Esra - - 2013
Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies. Following its description in two sibs in 1982, no new cases have been observed until the observation of two unrelated cases in 2008 who were homozygous for frameshift mutations in TBX15. ...
Hirvonen Timo Petteri - - 2013
To show that both hearing and vestibular loss can be reversible and quantified in Cogan's syndrome. Immunosuppressive medication was continued for more than 6 years in a young woman with Cogan's syndrome. Standard pure tone audiometry (PTA) and speech discrimination score (SDS) for hearing, motorized head impulse test (MHIT) for ...
Cuozzo Fernanda Dornelles Martins FD Master Program in Public Health, Federal University of Mato Grosso, Cuiaba-MT, - - 2013
This work aimed to access the profile of cleft lip and palate patients of a sub-population in Mid-West Brazil. Research was carried out through a cross-sectional study at the Craniofacial Rehabilitation Center of the University General Hospital of the University of Cuiabá, Mato Grosso, Brazil. Variables related to oral cleft ...
Viana Lucas M LM Department of Otology and Laryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA. - - 2013
Dandy's syndrome, or bilateral vestibular hypofunction and oscillopsia, may cause chronic disequilibrium aggravated by head movement or in the presence of reduced light. It may be secondary to ototoxicity, central nervous system tumors, Ménière's syndrome, infections, or trauma or may be idiopathic. To describe the temporal bone histopathology in one ...
Bender Céline A - - 2013
The purpose of this case report is to report the orthodontic surgical treatment and subsequent dental rehabilitation in two patients with Axenfeld-Rieger syndrome. Axenfeld-Rieger syndrome is a rare autosomal dominant condition characterized by ocular, dental, craniofacial, and periumbilical abnormalities. The treatment of two patients with various anomalies in Axenfeld-Rieger syndrome ...
González M García - - 2013
Oral-facial-digital (OFD) syndromes constitute a heterogeneous group of embrionary development disorders. There are at least 11 different forms, with a broad spectrum of clinical features, causing an important problem with the diagnosis. There are only a few reports in the recent literature, and there is no surgical technique described for ...
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