1,193 results match your criteria Waardenburg Syndrome
Med J Armed Forces India 2018 Oct 17;74(4):380-382. Epub 2017 Jul 17.
Senior Advisor & Head (Ophthalmology), Command Hospital (Eastern Command), Kolkata 700027, India.
Eur J Med Genet 2018 Nov 13. Epub 2018 Nov 13.
University of Torino, Department of Medical Sciences, 10126, Torino, Italy.
Microphthalmia with limb anomalies (MLA, OMIM, 206920) is a rare autosomal-recessive disease caused by biallelic pathogenic variants in the SMOC1 gene. It is characterized by ocular disorders (microphtalmia or anophtalmia) and limb anomalies (oligodactyly, syndactyly, and synostosis of the 4th and 5th metacarpals), variably associated with long bone hypoplasia, horseshoe kidney, venous anomalies, vertebral anomalies, developmental delay, and intellectual disability. Here, we report the case of a woman who interrupted her pregnancy after ultrasound scans revealed a depression of the frontal bone, posterior fossa anomalies, cerebral ventricular enlargement, cleft spine involving the sacral and lower-lumbar vertebrae, and bilateral microphthalmia. Read More
Clin Genet 2018 Nov 5. Epub 2018 Nov 5.
Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Waardenburg syndrome (WS) is a disorder of neural crest cell migration characterized by auditory and pigmentary abnormalities. We investigated a cohort of 14 families (16 subjects) either by targeted sequencing or whole-exome sequencing. Thirteen of these families were clinically diagnosed with WS and one family with isolated non-syndromic hearing loss (NSHL). Read More
Hear Res 2018 Dec 16;370:181-188. Epub 2018 Oct 16.
Departamento de Genética e Morfologia, Universidade de Brasília, Brasília, Brazil; Programa de Pós-graduação em Biologia Animal, Universidade de Brasília, Brasília, Brazil. Electronic address:
Syndromic hearing loss accounts for approximately 30% of all cases of hearing loss due to genetic causes. Mutation screening in known genes is important because it potentially sheds light on the genetic etiology of hearing loss and helps in genetic counseling of families. In this study, we describe a customized Ion AmpliSeq Panel, specifically designed for the investigation of syndromic hearing loss. Read More
Postgrad Med J 2018 Oct 29. Epub 2018 Oct 29.
Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Cureus 2018 Aug 14;10(8):e3143. Epub 2018 Aug 14.
Internal Medicine, Rawalpindi Medical University, Rawalpindi, PAK.
Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an autosomal dominant disease with four subtypes, each presenting with varying degrees of sensorineural hearing loss along with a constellation of other symptoms. Read More
BMC Ophthalmol 2018 Oct 11;18(1):266. Epub 2018 Oct 11.
Department of Ophthalmology, The Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, 211, Eonjuro, Gangnam-gu, Seoul, 06273, Korea.
Background: Waardenburg syndrome (WS) is a very rare genetic disorder affecting the neural crest cells. Coexistence of branch retinal vein occlusion (BRVO) and branch retinal artery occlusion (BRAO) in the same eye is also a rare finding. Here we report a case of WS type 1 that was confirmed by a novel mutation with the finding of unilateral BRVO and BRAO. Read More
Int J Mol Cell Med 2018 27;7(1):17-23. Epub 2018 Mar 27.
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Waardenburg syndrome (WS) is a neurocristopathy with an autosomal dominant mode of inheritance, and considerable clinical and genetic heterogeneity. WS type II is the most common type of WS in many populations presenting with sensorineural hearing impairment, heterochromia iridis, hypoplastic blue eye, and pigmentary abnormalities of the hair and skin. To date, mutations of , , and have been implicated in the pathogenesis of WS2. Read More
Int J Pediatr Otorhinolaryngol 2018 Oct 10;113:229-233. Epub 2018 Aug 10.
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Objectives: Waardenburg Syndrome (WS) as a congenital auditory-pigmentary syndrome is a clinically and genetically heterogeneous disorder. Based upon clinical manifestations, it can be classified into four types. Loss of function mutations in PAX3 gene cause WS1 and WS3 (Klein-Waardenburg syndrome). Read More
Dev Biol 2018 Aug 30. Epub 2018 Aug 30.
Laboratory of Embryology and Genetics of Congenital Malformations, INSERM U1163, Institut Imagine, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France; Service de Génétique Moléculaire, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France.
The endothelin system is a vertebrate-specific innovation with important roles in regulating the cardiovascular system and renal and pulmonary processes, as well as the development of the vertebrate-specific neural crest cell population and its derivatives. This system is comprised of three structurally similar 21-amino acid peptides that bind and activate two G-protein coupled receptors. In 1994, knockouts of the Edn3 and Ednrb genes revealed their crucial function during development of the enteric nervous system and melanocytes, two neural-crest derivatives. Read More
Dermatol Online J 2018 Jun 15;24(6). Epub 2018 Jun 15.
Department of Dermatology and Venereology, Istanbul Faculty of Medicine, Istanbul University, Istanbul.
We herein present a 4 year-old boy with Waardenburg-Shah syndrome who developed Jacquet erosive diaper dermatitis following a total colectomy and ileoanal anastomosis procedure for Hirschsprung disease. The diagnosis was made according to history and typical clinical findings. Complete resolution of the recalcitrant lesions after an ileostomy procedure supported the diagnosis. Read More
Cancer Lett 2018 Nov 16;436:75-86. Epub 2018 Aug 16.
Department of Pharmacology and Toxicology, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address:
Ovarian cancer is the fifth leading cause of cancer-related deaths among women in the United States. Although most patients respond to frontline therapy, virtually all patients relapse with chemoresistant disease. This study addresses the hypothesis that carboplatin or tamoxifen + FTY720, a sphingosine analogue, will minimize or circumvent drug-resistance in ovarian cancer cells and tumor models. Read More
Pigment Cell Melanoma Res 2018 Aug 16. Epub 2018 Aug 16.
Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Am J Med Genet A 2018 Sep 16;176(9):1968-1971. Epub 2018 Aug 16.
Greenwood Genetic Center, Greenwood, South Carolina.
Random mating in the general population tends to limit the occurrence of homozygous and compound heterozygous forms of dominant hereditary disorders. Certain phenotypes, the most recognized being skeletal dysplasias associated with short stature, lead to cultural interaction and assortative mating. To this well-known example, may be added deafness which brings together individuals with a variety of deafness genotypes, some being dominant. Read More
Pediatr Rep 2018 May 24;10(2):7500. Epub 2018 May 24.
First Department of Surgery.
Waardenburg syndrome (WS) has the characteristic clinical features caused by the embryologic abnormality of neural crest cells. WS patients sometimes suffer from functional intestinal obstruction. When it is Hirschsprung disease (HD), the WS is diagnosed as type 4 WS. Read More
Retin Cases Brief Rep 2018 Jul 16. Epub 2018 Jul 16.
Vitreous Retina Macula Specialists of Toronto, Etobicoke, Ontario, Canada.
Purpose: Waardenburg syndrome (WS) is a rare condition characterized by six main features. It has been previously observed that WS is also associated with hypopigmentation of the choroid through multimodal imaging. To our knowledge, this is the first report of using swept-source optical coherence tomography angiography (OCTA) on a patient with known WS. Read More
BMC Med Genomics 2018 Jul 9;11(1):58. Epub 2018 Jul 9.
Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) S. A, Avda. Richard Grandío s/n, 33193, Oviedo, Spain.
Background: Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accurate selection of target genomic regions (gene panel/exome/genome), analytical performance and variant interpretation remain relevant difficulties for its clinical implementation. Read More
J Med Case Rep 2018 Jul 5;12(1):192. Epub 2018 Jul 5.
ENT Department, Aleppo University Hospital, Aleppo, Syria.
Background: Waardenburg syndrome is a group of rare genetic conditions. It is determined by the absence of melanocytes from the eyes, hair, and skin. There are four types of Waardenburg syndrome with specific criteria to diagnosis the different types. Read More
Indian J Nephrol 2018 May-Jun;28(3):226-228
Department of Nephrology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of hearing loss, pigmentary anomalies, and defects of other neural crest cell-derived structures. The association of WS with renal anomalies has been described in the literature. However, nephrotic syndrome is a very rare association with WS, and only one case has been reported in the literature. Read More
Pigment Cell Melanoma Res 2018 Jun 25. Epub 2018 Jun 25.
Faculty of Medicine, Department of Biochemistry and Molecular Biology, BioMedical Center, University of Iceland, Reykjavik, Iceland.
Microphthalmia-associated transcription factor (MITF) is a member of the basic helix-loop-helix leucine zipper (bHLH-Zip) family and functions as the master regulator of the melanocytic lineage. MITF-M is the predominant isoform expressed in melanocytes and melanoma cells, and, unlike other MITF isoforms, it is constitutively nuclear. Mutational analysis revealed three karyophilic signals in the bHLH-Zip domain of MITF-M, spanning residues 197-206, 214-217, and 255-265. Read More
Methods Ecol Evol 2018 May 13;9(5):1179-1189. Epub 2018 Feb 13.
School of Geography University of Leeds Leeds UK.
Quantifying the relationship between tree diameter and height is a key component of efforts to estimate biomass and carbon stocks in tropical forests. Although substantial site-to-site variation in height-diameter allometries has been documented, the time consuming nature of measuring all tree heights in an inventory plot means that most studies do not include height, or else use generic pan-tropical or regional allometric equations to estimate height.Using a pan-tropical dataset of 73 plots where at least 150 trees had in-field ground-based height measurements, we examined how the number of trees sampled affects the performance of locally derived height-diameter allometries, and evaluated the performance of different methods for sampling trees for height measurement. Read More
Oman J Ophthalmol 2018 May-Aug;11(2):158-160
Department of Public Health Dentistry, VSPM Dental College and Hospital, Nagpur, Maharashtra, India.
Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. Read More
Otol Neurotol 2018 Jul;39(6):732-738
Centre of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem.
Objectives: The purpose of this study is to report the results of a comprehensive etiological work-up for congenitally deaf children including targeted next generation sequencing.
Study Design: Retrospective case review.
Setting: Tertiary referral center. Read More
PLoS One 2018 6;13(6):e0197636. Epub 2018 Jun 6.
Institute for Water and Wetland Research, Department of Animal Ecology and Physiology, Radboud University, Nijmegen, The Netherlands.
Invasions of Ponto-Caspian fish species into north-western European river basins accelerated since the opening of the Rhine-Main-Danube Canal in 1992. Since 2002, at least five Ponto-Caspian alien fish species have arrived in The Netherlands. Four species belong to the Gobiidae family (Neogobius fluviatilis, Neogobius melanostomus, Ponticola kessleri, and Proterorhinus semilunaris) and one to the Cyprinidae family (Romanogobio belingi). Read More
BMC Pediatr 2018 05 23;18(1):171. Epub 2018 May 23.
Department of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan.
Background: Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2.
Case Presentation: This report describes a patient with WS1 who harbored a novel SOX10 nonsense mutation (c. Read More
Sci Total Environ 2018 Apr 29;619-620:1183-1193. Epub 2017 Nov 29.
Department of Environmental Science, Institute for Water and Wetland Research, Radboud University, Nijmegen, The Netherlands; Department of Animal Ecology and Ecophysiology, Institute for Water and Wetland Research, Radboud University, Nijmegen, The Netherlands; Netherlands Centre of Expertise on Exotic Species (NEC-E), Nijmegen, The Netherlands. Electronic address:
The stability of habitat conditions in littoral zones of navigated rivers is strongly affected by shipping induced waves and water displacements. In particular, the increase of variability in flow conditions diminishes the suitability of these habitats for juvenile fishes. Recently, a novel ecosystem based river management strategy has resulted in the replacement of traditional river training structures (i. Read More
Gene 2018 Aug 4;666:145-157. Epub 2018 May 4.
Laboratory of Pathology, National Cancer Institute, Bethesda, MD, USA. Electronic address:
The PAX3 gene encodes a member of the PAX family of transcription factors that is characterized by a highly conserved paired box motif. The PAX3 protein is a transcription factor consisting of an N-terminal DNA binding domain (containing a paired box and homeodomain) and a C-terminal transcriptional activation domain. This protein is expressed during development of skeletal muscle, central nervous system and neural crest derivatives, and regulates expression of target genes that impact on proliferation, survival, differentiation and motility in these lineages. Read More
BMC Neurosci 2018 May 2;19(1):28. Epub 2018 May 2.
Department of Otolaryngology, Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Key Laboratory of Hearing Impairment Science, Chinese PLA Medical School,Ministry of Education, Beijng, China.
Background: Auditory function and cochlear morphology have previously been described in a porcine model with spontaneous WS2-like phenotype. In the present study, cochlear histopathology was further investigated in the inner ear of the developing spontaneous deafness pig.
Results: We found that the stria vascularis transformed into a complex tri-laminar tissue at embryonic 85 days (E85) in normal pigs, but not in the MITF pigs. Read More
Am J Med Genet A 2018 May;176(5):1195-1199
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
In this report, we present the case of a female infant with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) associated with a novel frameshift mutation (c.842dupT) in exon 5, the last exon of SOX10. She had severe hypoganglionosis in the small intestine and entire colon, and suffered from frequent enterocolitis. Read More
Ann Clin Lab Sci 2018 Mar;48(2):248-252
The Endocrinology Department of the Third Xiangya Hospital, Central South University, Changsha, Hunan Province, China
Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder characterized by hypogonadotropic hypogonadism and olfactory dysfunction. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS), have been identified in a few KS patients with additional developmental defects including hearing loss. However, the understanding of SOX10 mutation associates with KS and other clinical consequences remains fragmentary. Read More
Pediatr Pulmonol 2018 Jul 10;53(7):857-865. Epub 2018 Apr 10.
Department of Pediatric Intensive Care, Erasmus Medical Centre, Sophia's Children Hospital, Rotterdam, The Netherlands.
The number of children requiring pediatric intensive care unit (PICU) admission for severe acute asthma (SAA) around the world has increased.
Objectives: We investigated whether this trend in SAA PICU admissions is present in the Netherlands.
Methods: A multicenter retrospective cohort study across all tertiary care PICUs in the Netherlands. Read More
Dermatol Online J 2018 Feb 15;24(2). Epub 2018 Feb 15.
Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas..
Waardenburg Syndrome (WS) is a condition characterized by pigmentary changes of the hair or skin, hearing loss, heterochromia iridis, and dystopia canthorum. There are four main types of WS, which can be commonly caused by mutations in the PAX3, MITF, EDNRB, EDN3, SNAI2, or SOX10 genes. Herein, we present a patient with Waardenburg Syndrome type 2 with no findings of mutations in the commonly associated genes. Read More
J Hum Genet 2018 May 12;63(5):639-646. Epub 2018 Mar 12.
Department of Otorhinolaryngology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.
Mutation in the gene encoding microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome 2 (WS2), an autosomal dominantly inherited syndrome with auditory-pigmentary abnormalities, which is clinically and genetically heterogeneous. Haploinsufficiency may be the underlying mechanism for WS2. However, the mechanisms explaining the genotypic and phenotypic variations in WS2 caused by MITF mutations are unclear. Read More
Pediatr Med Chir 2017 Dec 15;39(4):169. Epub 2017 Dec 15.
Department of Neurosciences, Ophthalmology, Rehabilitation, Genetics, and Mother-Child Sciences, University of Genoa, Genoa.
The Authors report on a patient with Kearns-Sayre syndrome, large mtDNA deletion (7/kb), facial abnormalities and severe central nervous system (CNS) white matter radiological features, commonly attributed to spongy alterations. The common origin from neural crest cell (NCC) of facial structures (cartilagineous, osseous, vascular and of the peripheral nervous system) and of peripheral glia and partially of the CNS white matter are underlined and the facial and glial abnormalities are attributed to the abnormal reproduction/migration of NCC. In this view, the CNS spongy alterations in KSS may be not only a dystrophic process (leukodystrophy) but also a dysplastic condition (leukodysplasia). Read More
Ir Med J 2017 Dec 18;110(10):651. Epub 2017 Dec 18.
Department of Paediatrics, Cork University Hospital, Cork, Ireland.
The Newborn Hearing Screening Programme (NHSP) was established in Cork University Maternity Hospital (CUMH) in April 2011. Between April 2011 and July 2014, 42 infants were identified with a Permanent Childhood Hearing Impairment (PCHI). Following this diagnosis, infants underwent a paediatric assessment according to recognised guidelines with the intention of identifying the underlying aetiology of the PCHI. Read More
J Pediatr Genet 2018 Mar 4;7(1):1-8. Epub 2018 Jan 4.
Department of Otolaryngology - Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, Indiana, United States.
Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF. Read More
Proc Natl Acad Sci U S A 2018 02 5;115(8):1837-1842. Epub 2018 Feb 5.
Key Laboratory of Forest Ecology and Environment of State Forestry Administration, Institute of Forest Ecology, Environment and Protection, Chinese Academy of Forestry, Beijing 100091, China.
Knowledge about the biogeographic affinities of the world's tropical forests helps to better understand regional differences in forest structure, diversity, composition, and dynamics. Such understanding will enable anticipation of region-specific responses to global environmental change. Modern phylogenies, in combination with broad coverage of species inventory data, now allow for global biogeographic analyses that take species evolutionary distance into account. Read More
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Feb;35(1):81-83
Center of Medical Genetics, Maternal and Child Health Care Hospital of Gansu Province, Lanzhou, Gansu 730050, China. Email:
OBJECTIVE To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. METHODS Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Read More
Eur J Med Genet 2018 Jun 31;61(6):348-354. Epub 2018 Jan 31.
Department of Genetics and Evolutionary Biology, Biosciences Institute, University of Sao Paulo (USP), Sao Paulo, SP, 05508-090, Brazil. Electronic address:
This paper deals with the molecular investigation of Waardenburg syndrome (WS) in a sample of 49 clinically diagnosed probands (most from southeastern Brazil), 24 of them having the type 1 (WS1) variant (10 familial and 14 isolated cases) and 25 being affected by the type 2 (WS2) variant (five familial and 20 isolated cases). Sequential Sanger sequencing of all coding exons of PAX3, MITF, EDN3, EDNRB, SOX10 and SNAI2 genes, followed by CNV detection by MLPA of PAX3, MITF and SOX10 genes in selected cases revealed many novel pathogenic variants. Molecular screening, performed in all patients, revealed 19 causative variants (19/49 = 38. Read More
Hum Mol Genet 2018 03;27(6):1078-1092
Institut für Biochemie, Emil-Fischer-Zentrum, Friedrich-Alexander Universität Erlangen-Nürnberg, D-91054 Erlangen, Germany.
Human SOX10 mutations lead to various diseases including Waardenburg syndrome, Hirschsprung disease, peripheral demyelinating neuropathy, central leukodystrophy, Kallmann syndrome and various combinations thereof. It has been postulated that PCWH as a combination of Waardenburg and Hirschsprung disease, peripheral neuropathy and central leukodystrophy is caused by heterozygous SOX10 mutations that result in the presence of a dominantly acting mutant SOX10 protein in the patient. One such protein with postulated dominant action is SOX10 Q377X. Read More
J Dev Behav Pediatr 2018 Feb/Mar;39(2):177-179
Case: Sonia is a 4 years 1 month-year-old girl with Waardenburg syndrome and bilateral sensorineural hearing loss who had bilateral cochlear implants at 2 years 7 months years of age. She is referred to Developmental-Behavioral Pediatrics by her speech/language pathologist because of concerns that her language skills are not progressing as expected after the cochlear implant. At the time of the implant, she communicated using approximately 20 signs and 1 spoken word (mama). Read More
Int J Pediatr Otorhinolaryngol 2018 Jan 31;104:88-93. Epub 2017 Oct 31.
Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy; Neuroscience Department, University of Padova, Italy. Electronic address:
Objectives: This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness.
Methods: The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives. Read More
Int J Pediatr Otorhinolaryngol 2018 Jan 16;104:200-204. Epub 2017 Nov 16.
Department of Otorhinolaryngology, Hainan General Hospital, Haikou 570311, China. Electronic address:
Objectives: Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. Read More
BMJ Case Rep 2017 Dec 22;2017. Epub 2017 Dec 22.
Department of Paediatrics, Bapuji Child Health Institute and Research Centre, Davangere, India.
We present the case of a 45-day-old child with the chief complaint of failure to pass stools for 10 days. After initial investigation, the patient was found to have Hirschsprung's disease. However, with further examination and analysis, the extremely rare diagnosis of type 4 Waardenburg syndrome was made (also known as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung's disease). Read More
Int J Pediatr Otorhinolaryngol 2017 Dec 28;103:14-19. Epub 2017 Sep 28.
Université de Tunis El Manar, Faculté de Médecine de Tunis, Laboratoire de Génétique Humaine, Tunis, Tunisia; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.
Waardenburg syndrome (WS) is an auditory-pigmentary disease characterized by a clinical and genetic variability. WS is classified into four types depending on the presence or absence of additional symptoms: WS1, WS2, WS3 and WS4. Type 1 and 3 are mostly caused by PAX3 mutations, while type 2 and type 4 are genetically heterogeneous. Read More
Eur Respir J 2017 Dec 7;50(6). Epub 2017 Dec 7.
Dept of Paediatrics, Antwerp University Hospital, Edegem, Belgium.
The present statement was produced by a European Respiratory Society Task Force to summarise the evidence and current practice on the diagnosis and management of obstructive sleep disordered breathing (SDB) in children aged 1-23 months. A systematic literature search was completed and 159 articles were summarised to answer clinically relevant questions. SDB is suspected when symptoms or abnormalities related to upper airway obstruction are identified. Read More
Pediatr Dev Pathol 2018 Nov-Dec;21(6):561-567. Epub 2017 Dec 7.
1 Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina.
The SOX10 gene plays a vital role in neural crest cell development and migration. Abnormalities in SOX10 are associated with Waardenburg syndrome Types II and IV, and these patients have recognizable clinical features. This case report highlights the first ever reported homozygous loss of function of the SOX10 gene in a human. Read More
Eur Arch Otorhinolaryngol 2018 Feb 4;275(2):365-369. Epub 2017 Dec 4.
King Abdullah Ear Specialist Center (KAESC), College of Medicine, King Saud University, PO Box 245, Riyadh, 11411, Saudi Arabia.
Objective: To assess the outcome and efficacy of cochlear implantation in children with genetic syndromes.
Method: Study design: case-control study.
Setting: A cochlear implantation tertiary referral center. Read More
J Dermatol 2018 May 23;45(5):e110-e111. Epub 2017 Nov 23.
Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.