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Lin Shih-Sen SS Division of Chest Medicine, Department of Internal Medicine, Shin Kong Wu Ho-Su Memorial Hospital, Taipei 11101, Taiwan, Republic of - - 2014
Eosinophilic pneumonia (EP) is a disease characterized by prominent infiltration of lung structures by eosinophils. The lung interstitium is infiltrated by eosinophils, and essentially the alveolar spaces are filled with eosinophils and a fibrinous exudate, with conservation of the global architecture of the lung. Diagnosis of EP relies on pathological ...
Peckruhn Melanie M Department of Dermatology, University Hospital Jena, Jena, - - 2014
: Eosinophilic cellulitis is an inflammation of, until now, unknown etiology that was first described by George Wells in 1971. Its dominating histological hallmarks are so-called "flame figures" and an eosinophilic infiltrate. Here, we report the case of a 46-year-old man who initially presented with excoriated papules that were histologically ...
Thakur Arpita Rai AR Department of Oral Medicine and Radiology, Faculty of Dentistry Jamia Millia Islamia, New Delhi, Delhi, 110025, India, - - 2014
Hurler syndrome is a disorder of mucopolysaccharide metabolism caused due to inherited deficiencies of lysosomal α-l-iduronidase activity. We present a case of a 15-year-old male patient presenting with clinical and laboratory characteristics of the syndrome. A rare combination of skeletal, ophthalmologic, and dental findings was observed in this patient. Mucopolysaccharides ...
Koenighofer Martin M Department of Otorhinolaryngology-Head and Neck Surgery, Medical University of Vienna, AKH 8J, Waehringer Guertel 18-20, 1090, Vienna, - - 2014
The objective of this study was to investigate the relevance of routine assessment of c.-259C>T in the Austrian newborn screening program. Homozygous and compound heterozygous mutations in the coding region of the human gene encoding gap junction protein GJB2 (Connexin 26) cause up to 50 % of neonatal autosomal recessive non-syndromic ...
Lanthier Nicolas N Laboratoire de Gastroentérologie et Hépatologie, Institut de Recherche Expérimentale et Clinique, Université catholique de Louvain, Brussels, Belgium; Service d'Hépato-Gastroentérologie, Cliniques Universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium. Electronic address: - - 2014
In the context of obesity, white adipocyte hypertrophy and adipose tissue macrophage infiltration result in the production of pro-inflammatory adipocytokines inducing insulin resistance locally but also in distant organs and contributing to low grade inflammatory status associated with the metabolic syndrome. Visceral adipose tissue is believed to play a prominent ...
Reuland-Bosma Wimke W Centre for Special Care Dentistry, CBT Rijnmond in Rotterdam, The - - 2014
The purpose of this study was to investigate the distribution of permanent canine agenesis in subjects with Down syndrome (DS). Subjects with canine agenesis were determined by means of panoramic radiographs from 150 DS subjects attending a center for special care dentistry. Our results confirm the high prevalence of agenetic ...
Manyama Mange - - 2014
Orofacial clefts (cleft lip/palate; CL/P) are among the most common congenital anomalies, with prevalence that varies among different ethnic groups. Craniofacial shape differences between individuals with CL/P and healthy controls have been widely reported in non-African populations. Knowledge of craniofacial shape among individuals with non-syndromic CL/P in African populations will ...
Ysunza Antonio A Ian Jackson Craniofacial Clinic, Beaumont Health System, Royal Oak, MI, United States. Electronic address: - - 2014
22q11.2 microdeletion syndrome (22q11.2DS) is the most common syndrome associated with cleft palate and velopharyngeal insufficiency (VPI). Over 180 clinical features have been described. Most common features include: cardiac malformations, cleft palate, velopharyngeal insufficiency, characteristic facial features, hypotonia, behavioral disorders, and musculoskeletal disorders among several other fenotipical features. A case ...
Cehreli S B SB Başkent University Faculty of Dentistry, Paediatric Dentistry, Bağl?ca, - - 2014
Otodental syndrome is a rare condition characterised by globodontia, and sensorineural high frequency hearing loss. To date, only 20 cases of otodental syndrome have been reported. A 6 year-old girl presented with a chief complaint of delay in the eruption of primary canines. Following clinical, radiographic and audiologic evaluations, the ...
Pritchett Cedric V CV *Divisions of Otology-Neurotology, and †Head and Neck Surgery, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan, - - 2014
Document a case of bilateral otosclerosis with coexisting bilateral superior semicircular canal dehiscence syndrome and the treatment of hearing loss in this setting. A 33-year-old woman presented with bilateral mixed hearing loss; worse in the left ear. This was gradual in onset, and she denied dizziness. Computerized tomographic scan revealed ...
Yu Yi-Ru YR Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, - - 2014
OVCA1/DPH1 (OVCA1) encodes a component of the diphthamide biosynthesis pathway and is located on chromosome 17p13.3. Deletions in this region are associated with Miller-Dieker syndrome (MDS). Ovca1/Dph1 (Ovca1) null mice exhibit multiple developmental defects, including cleft palate, growth restriction, and perinatal lethality, suggesting a role in the craniofacial abnormalities associated ...
Nájera Fernando - - 2014
A 32-day-old, hand-reared, captive-born female clouded leopard (Neofelis nebulosa) cub presented as being unable to stand, ambulate, or adduct both hind limbs. The cub exhibited hyperextension of both tarsal joints and a flattened thorax, which limited mobility to "swimmer-like" movements. Neither congenital defects nor neurologic deficits were observed during the ...
Elmi P - - 2014
The aim of this study was to describe directional and fluctuating mandibular asymmetry over time in children with Crouzon or Apert syndrome. Mandibular asymmetry of children between 7.5 and 14 years of age with Crouzon syndrome (n = 35) and Apert syndrome (n = 24) were compared with controls (n ...
Mew M M Lecturer and Clinical Director, London School of Facial Orthotropics, 16-18 Pampisford Road, Purley, Surrey, CR8 - - 2014
This article proposes a possible syndrome, craniofacial dystrophy (CFD), as one of the underlying causes of malocclusion and a range of other symptoms. These symptoms have seen a dramatic rise in the twentieth century, lack a clear aetiology and are currently treated symptomatically. Over the last 10,000 years there has ...
Ashraf N N Department of ENT,Sheffield Children's - - 2014
Objective: To review the diagnosis of Munchausen syndrome by proxy, a factitious disorder, in which symptoms are induced or feigned, usually in a child, by the caregiver. The involved caregiver seeks to gain attention or sympathy and often has a psychological need to maintain the sick role. We highlight the ...
Schifferli Alexandra A Department of haematology/oncology, University Children's Hospital Basel, Basel, - - 2014
Transient myeloproliferative disorder (TMD) is a clonal proliferation of megakaryoblasts, typically occurring in newborns with Down syndrome. It is believed that TMD occurs in the presence of GATA1 mutation together with trisomy 21. However a limited number of patients with TMD but without Down syndrome have been reported, all with ...
Hotaling Jeffrey M JM Loyola University Medical Center, Department of Otolaryngology - Head and Neck Surgery, 2160 S. First Avenue, Building 105, Room 1870, LUMC, Maywood, IL 60153, USA. Electronic address: - - 2014
This case report demonstrates the otologic complications of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis (SJS/TEN). A five year-old male was admitted to the burn unit with the diagnosis of SJS/TEN believed secondary to acetaminophen use. After resolution of the acute phase, the patient was left with a severe auricular deformity ...
Basile Emanuela E From the *Dipartimento di Scienze Odontostomatologiche e maxillofacciali, and †Dipartimento di Pediatria, Emergenza Pediatrica e Terapia Intensiva, Università Sapienza di Roma; and ‡Divisione di Genetica Medica, Dipartimento di Medicina Molecolare, Università Sapienza, Ospedale San Camillo-Forlanini l, Roma, - - 2014
Larsen syndrome (LS) is a rare bone dysplasia characterized by multiple dislocations affecting large and small joints, progressive scoliosis, accessory and early ossifying carpal/tarsal bones, and characteristic craniofacial features. A newborn with a clinical diagnosis of LS is presented. Shortly after birth, she had respiratory distress due to retrognathia. Such ...
Jalil Jawad J Department of Paediatric, Combined Military Hospital, Multan - - 2014
The association of branchial arch anomalies (branchial cysts, branchial fistulas), hearing loss and renal anomalies constitutes the branchio-oto-renal (BOR) syndrome also known as Melnick Fraser syndrome. We present a case of this rare disorder in a girl child who presented with profound deafness, preauricular pits, branchial sinuses and renal hypoplasia.
Feresiadou Amalia A Neurology, Department of Neuroscience, Oncology and Radiation Science, Uppsala University, Uppsala, - - 2014
Susac syndrome is an autoimmune microangiopathy affecting the brain, retina and inner ear (cochlea and semicircular canals), leading to encephalopathy, branch retinal artery occlusions (BRAOs) and asymmetric neurosensory hearing loss, respectively. The natural history and long-term prognosis are variable as the disease has been shown to be monophasic and self-limiting, ...
Paradowska-Stolarz Anna M AM Department of Dentofacial Anomalies, Department of Orthodontics, Wroclaw Medical University, - - 2014
Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the ...
Cobb Alistair R M AR Southwest Cleft Service and Oral & Maxillofacial Surgery Department, North Bristol NHS Trust, Bristol, United Kingdom. Electronic address: - - 2014
Treacher Collins syndrome (TCS), mandibulofacial dysostosis, or Franceschetti-Zwahlen-Klein syndrome, is a rare genetic disorder characterised by dysgenesis of the hard and soft tissues of the first and second branchial arches. Early operations focus on maintaining the airway, protecting the eyes, and supporting auditory neurological development. Later operations include staged reconstruction ...
Antulov Ronald R Department of Radiology, Clinical Hospital Center Rijeka, Rijeka, Croatia. Electronic address: - - 2014
Susac's syndrome (SS) is an infrequent neurological disorder characterized by the clinical triad of encephalopathy, branch retinal artery occlusion and hearing loss due to an autoimmune endotheliopathy associated with anti-endothelial cell antibodies. At the onset of the disease SS rarely appears with the complete clinical triad. The most important diagnostic ...
Greco Antonio A Department Organs of Sense, ENT Section, University of Rome "La Sapienza", Viale del Policlinico 155, 00100 Roma, Italy. Electronic address: - - 2014
Susac's syndrome is a rare disease that is characterised by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. It was first described as a distinctive syndrome by Susac in 1979. There have been 304 reported individual patients with Susac's syndrome. Etiopathogenesis is not clear, although ...
Azaiez Hela H Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, - - 2014
Hereditary hearing loss (HHL) is extremely heterogeneous. Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accelerated. In a family segregating progressive autosomal dominant non-syndromic hearing loss (ADNSHL) we used OtoSCOPE® to exclude mutations in known ...
Zhang Luping L Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of medicine, Shanghai, 200092, China; Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China; Department of Otolaryngology-Head and Neck Surgery, Affiliated Hospital of Nantong University, Jiangsu, 226001, - - 2014
Mutations in TBC1D24 have been linked to a variety of epileptic syndromes and recently to syndromic hearing impairment DOORS syndrome and non-syndromic hearing impairment DFNB86. All TBC1D24 mutations reported so far were inherited in the recessive mode. In a dominant family segregated with late-onset, progressive, non-syndromic hearing impairment, linkage analysis ...
Ababneh Farouq K FK Division of Genetics, Department of Pediatrics, King Abdul Aziz Medical City for National Guard, Riyadh, Saudi - - 2014
The combination of lagophthalmia, euryblepharon, ectropion of lower eyelids, distichiasis, bilateral cleft lip and palate, and oligodontia comprises the blepharo-cheilo-dontic (BCD) syndrome. This combination has been found sporadically or with positive family history and inherited as an autosomal dominant condition with variable expression. We described a Saudi boy with the ...
Cascone Piero P Maxillo-Facial Surgery Dept (Chair: G. Iannetti, MD, PhD), "Sapienza" Università di Roma, Via del Policlinico, Roma, - - 2014
Pierre Robin Sequence (PRS) is a congenital abnormality characterized by mandibular hypoplasia, glossoptosis and often secondary palate cleft. It may be an isolated or part of a most complicated syndrome. The genetic syndrome that most frequently co-occurs is Stickler syndrome characterized by skeletal abnormalities, joint pain, congenital myopia and retinal ...
Tonolli Vanessa Mello VM "Júlio de Mesquita Filho" Paulista State University, Botucatu, SP, - - 2014
Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, ...
Bahmad Jr Fayez F Faculdade de Medicina, Universidade de Brasília, Brasília, DF, - - 2014
Introduction: Alström Syndrome is a rare disease caused by mutations in ALMS1 gene. It is characterized by a progressive degeneration of sensory functions, resulting in visual and audiological impairment, as well as metabolic disturbances such as childhood obesity, hyperinsulinemia, and diabetes mellitus type 2. Objective: To report and discuss the ...
Carpentier S S Department of Oral Health Sciences, Orthodontics, Katholieke Universiteit Leuven, Kapucijnenvoer 7, 3000, Leuven, - - 2014
Apert syndrome is a severe developmental malformation, clinically characterised by craniosynostosis, midface hypoplasia, a cone-shaped calvarium, ocular manifestations, typical dental findings and syndactyly of the hands and feet. Early craniosynostosis of the coronal suture, the cranial base and agenesis of the sagittal suture are prodromal characteristics for the typical craniofacial ...
Basura Gregory J GJ From the Division of Otology-Neurotology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, - - 2014
Tullio phenomenon refers to eye movements induced by sound.(1) This unusual examination finding may be seen in superior semicircular canal dehiscence (SSCD) syndrome.(2) This disorder is due to absent bone over the superior semicircular canal (figure ). Patients complain of dizziness triggered by loud sound, aural fullness, autophony, and pulsatile ...
Alves Daniel Berretta DB Daniel Berretta Alves, Department of Radiology, Esperança Institute of Higher Learning, Santarém-Pará 68040-100, - - 2014
Hutchinson-Gilford progeria syndrome (HGPS) is a rare dysmorphic syndrome characterized by several features of premature aging with clinical involvement of the skin, bones, and cardiovascular system. HGPS has an estimated incidence of one in four million to one in eight million births. The main clinical features of HGPS include short ...
Ozsu Elif E Kocaeli University Medical Faculty, Department of Pediatric Endocrinology and Diabetes, Kocaeli, Turkey. E-mail: - - 2014
The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin ...
Halasy Michael P MP Michael P. Halasy is an instructor in emergency medicine at the Spine Center in the College of Medicine at the Mayo Clinic in Rochester, Minn. Christopher R. Thibault is a physical therapist at Orlando (Fla.) Regional Medical Center. The authors have disclosed no potential conflicts of interest, financial or - - 2014
Although vertigo is a common complaint with patients presenting to an ED, some uncommon causes also must be considered. This report focuses on a woman who developed sudden-onset vertigo with associated mental status changes after a long-distance flight. Her symptoms were consistent with mal de debarquement syndrome, an uncommon cause ...
Holla Goda - - 2014
Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly that affects 1:50,000 live births. SMMCI syndrome is characterized by the presence of a single central incisor located on the maxillary midline in both primary and permanent dentitions. It may occur as an isolated finding or in association ...
Agochukwu Nneamaka B - - 2014
PURPOSE There are a number of craniosynostoses syndromes with hearing loss , including Muenke ,Apert , Pfeiffer, Crouzon, Beare-Stevenson, Crouzon with acanthosis nigricans, and Jackson-Weiss syndromes, that result from mutations in the FGFR genes. Studies of Fibroblast Growth Receptors (FGFRs) and their ligands, Fibroblast Growth Factors (FGFs) have revealed clues ...
El-Amraoui Aziz A Institut Pasteur, unité de génétique et physiologie de l'audition, 25, rue du Docteur-Roux, 75015 Paris, France; Inserm UMRS1120, 75015 Paris, France; UPMC, 75015 Paris, France. Electronic address: - - 2014
The Usher syndrome (USH) is the most prevalent cause of inherited deaf-blindness. Three clinical subtypes, USH1-3, have been defined, and ten USH genes identified. The hearing impairment due to USH gene defects has been shown to result from improper organisation of the hair bundle, the sound receptive structure of sensory ...
Ahmed Bilal B Department of Prosthodontics, Islamic International Dental College (IIDC), Riphah International University, - - 2014
Cherubism is a self limiting, autosomal dominant, fibro-osseous lesion of the maxillo facial region affecting the young adults. The etiology is considered to be a mutation of the SH3BP2 gene from chromosome 4p16.3. Sporadic non-familial cases have also been reported. The affected subjects usually present with simultaneous, bilateral swellings of ...
Singh Kunwarjeet K Department of Prosthodontics, Institute of Dental Studies and Technologies, Modinagar, Ghaziabad, - - 2014
Gardner's syndrome is a genetic condition demonstrating an autosomal dominant trait and characterized by the multiple colonic polyps (familial adenomatous polyposis coli) with sebaceous cysts and jaw osteomas. Various dental abnormalities present in patient's suffering with this syndrome includes multiple impacted or unerupted teeth, supernumerary teeth, hypodontia, compound odontomes and ...
Shephard M - - 2014
Gorlin and Goltz described a syndrome in which multiple basal cell carcinomas, odontogenic keratocysts and bifid ribs occurred in combination. The jaw keratocysts are a consistent feature of 'Gorlin-Goltz' or naevoid basal cell carcinoma syndrome. Central nervous system and ocular involvement occurred together with the fairly typical facial features of ...
Sharma Gaurav - - 2014
Talon's cusp is an anomalous structure that projects palatally from the cingulum areas of maxillary or mandibular anterior teeth. This dental anomaly may pose several pathological, functional and esthetic problems. Talon cusps usually affect a single tooth, but may rarely affect an entire sextant. Such multiple talon cusps may not ...
Kaya Avni A Departments of Pediatric - - 2014
Alström syndrome (Online Mendelian Inheritance in Man ALMS #203800) is a rare hereditary disorder caused by mutations in the gene ALMS1. This rare disorder's characteristics are cone-rod dystrophy resulting in blindness in childhood, insulin-resistant type 2 diabetes mellitus, truncal obesity, progressive sensorineural hearing loss, dilated cardiomyopathy, craniofacial features, hypothyroidism, elevation ...
Berger Amy C - - 2014
Connexin 30 (Cx30), a member of the large gap junction protein family, plays a role in the homeostasis of the epidermis and inner ear through gap junctional intercellular communication (GJIC). Here, we investigated the underlying mechanisms of four autosomal dominant Cx30 gene mutations linked to hearing loss and/or various skin ...
Baxter Michael M Department of Otolaryngology-Head and Neck Surgery, The Johns Hopkins University School of Medicine, Baltimore, - - 2014
Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography ...
Lehalle Daphné D Département de Génétique, Hôpital Necker-Enfants Malades, APHP, Paris, - - 2014
Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs) and radial ray defects. MFDGA emerges as a ...
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. ...
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