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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 ...
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 ...
Shepard M M Oral Medicine and Oral Pathology, Westmead Centre for Oral Health, Westmead, New South - - 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 ...
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 ...
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 ...
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. ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 - - 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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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.
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 ...
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 ...
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 ...
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 ...
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 ...
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