Summary: Mandibulofacial dysostosis with congenital eyelid dermoids.
Publications179 found, 100 shown here
- Goldenhar's syndrome associated with multiple congenital abnormalitiesSuleyman Bayraktar
Haseki Research and Education Hospital, Istanbul, Turkey
J Trop Pediatr 51:377-9. 2005..The disease occurs as sporadic cases. Male:female ratio for the Goldenhar's syndrome is 2:1. A 72-day-old Goldenhar's syndrome case is reported who presented with multiple congenital anomalies...
- Goldenhar syndrome with various clinical manifestationsRadomír Kokavec
Department of Plastic and Reconstructive Surgery, Comenius University, Bratislava, Slovak Republic
Cleft Palate Craniofac J 43:628-34. 2006Four case reports of children with clinical features of Goldenhar syndrome are described...
- Clinical manifestations in 17 Greek patients with Goldenhar syndromeV Touliatou
Medical Genetics Laboratory, University of Athens, Aghia Sophia Children s Hospital, Greece
Genet Couns 17:359-70. 2006..Precise evaluation of GS patients and multidisciplinary care management is necessary to avoid possible complications of many systems and to offer appropriate genetic counselling to the family...
- Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndromeDagmar Wieczorek
Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Hufelandstr 55, 45122, Essen, Germany
Hum Genet 121:369-76. 2007..0025). An excess of ART conceptions and monozygotic twinning in OAVS is compatible with the concept of overripeness ovopathy as proposed by Jongbloet (Maandschr Kindergeneeskd 36:352-367, 1968)...
- Goldenhar syndrome in association with agenesia of the internal carotid arteryGiuseppina Ottaviano
Audiology and E N T Department, University of Ferrara, Ferrara, Italy
Int J Pediatr Otorhinolaryngol 71:509-12. 2007The association between Goldenhar syndrome and homolateral internal carotid artery agenesis to our knowledge, has never emerged before. We present a case report in a female child that was examined with tonal audiometry, A.B.R...
- Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literatureFrederick A Jakobiec
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA
Surv Ophthalmol 55:78-84. 2010..polypoidal lipodermoid coloboma accompanied by an upper eyelid coloboma that was not associated with Goldenhar syndrome. Histopathologically the excised lesion displayed superficial layers of epidermis and a thin dermis with ..
- [Limbal dermoid and Goldenhar syndrome. Report of an anatomoclinical study]J J Saragoussi
Service d'Ophtalmologie, , place du Parvis Notre-Dame, 75181 Paris
J Fr Ophtalmol 24:893-6. 2001..This additional change allowed us to establish the diagnosis of a minor form of Goldenhar syndrome. This malformative syndrome typically includes several changes: dermoid and/or dermolipoma, preauricular ..
- Atypical goldenhar syndrome: a case reportAshok Kumar Jena
Dept of Orthodontics and Dentofacial Orthopedics, RAMA Dental College, Hospital and Research Centre, Lakhanpur, Kanpur 208024, India
J Clin Pediatr Dent 31:118-22. 2006A patient with atypical Goldenhar syndrome is reported. The characteristic features similar to the other reported cases are facial asymmetry, multiple skin tags, limbal dermoids and posteriorly angulated ear...
- 31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findingsO Engiz
Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Dogramaci Children s Hospital, Ankara, Turkey
Genet Couns 18:277-88. 2007b>Goldenhar syndrome (GS) or oculoauriculovertebral dysplasia (OAVD) is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities and vertebral anomalies of different size and shape...
- Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)Rafael Fabiano Machado Rosa
UFCSPA CHSCPA, Brazil
Braz J Otorhinolaryngol 77:455-60. 2011..Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches...
- Craniofacial features in Goldenhar syndromeC Vinay
Department of Pedodontics and Preventive Dentistry, Vishnu Dental College and Hospital, Bhimavaram 534202, Andhra Pradesh, India
J Indian Soc Pedod Prev Dent 27:121-4. 2009b>Goldenhar syndrome also known as oculo-auriculo-vertebral syndrome was first reported by Dr Maurice Goldenhar in 1952...
- Goldenhar syndrome with unusual featuresBijal Mehta
Department of Dermatology, T N Medical College and B Y L Nair Ch Hospital, Mumbai Central, Mumbai 400 008, India
Indian J Dermatol Venereol Leprol 74:254-6. 2008We report here the case of a 17 year-old girl with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia) and cervical lordosis...
- Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classificationChristiane Tasse
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr 55, 45122 Essen, Germany
Eur J Med Genet 48:397-411. 2005....
- Microvascular temporomandibular joint and mandibular ramus reconstruction in hemifacial microsomiaS K Vilkki
Department of Hand Surgery and Microsurgery, Tampere University Hospital, Tampere, Finland
J Craniofac Surg 13:809-15. 2002..in a 4-year-old hemifacial microsomia patient with multiple craniofacial and extracranial anomalies (Goldenhar syndrome)...
- Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (Hemifacial Microsomia)J K Hartsfield
Department of Orthodontics and Oral Facial Genetics, Indiana University School of Dentistry, Indianapolis, IN, USA
Orthod Craniofac Res 10:121-8. 2007..The same genetic-environmental factors and or etiological mechanisms may then be investigated in apparently sporadic cases...
- Congenital deformities and developmental abnormalities of the mandibular condyle in the temporomandibular jointKeiseki Kaneyama
Department of Oral and Maxillofacial Surgery, School of Medicine, Kanazawa Medical University, Ishikawa, Japan
Congenit Anom (Kyoto) 48:118-25. 2008..In addition, the molecular-based etiology of anomalies of the mandibular condyle is also discussed...
- Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factorsKerstin Strömland
Department of Ophthalmology, The Sahlgrenska Academy at Goteborg University, Goteborg, Sweden
Am J Med Genet A 143:1317-25. 2007..Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy...
- Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literatureSiulan Vendramini
Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Brazil
Eur J Hum Genet 15:411-21. 2007..We postulate that radial defects associated with OAVS might represent a subset within this spectrum...
- Goldenhar syndrome associated with prenatal maternal Fluoxetine ingestion: Cause or coincidence?Chantal Farra
Department of Pediatrics, American University of Beirut Medical Center, Lebanon
Birth Defects Res A Clin Mol Teratol 88:582-5. 2010b>Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a complex, heterogeneous condition characterized by abnormal prenatal development of facial structures...
- Goldenhar syndrome associated with growth hormone deficiencyA M Yusufoğlu
Ankara Diskapi Children s Hospital, Ankara, Turkey
Genet Couns 19:173-6. 2008b>Goldenhar syndrome is a rare disorder of unknown etiology. The most frequent findings are vertebral defects, hemifacial microsomia and ear abnormalities. We present an 8-year-old boy with oculo-auriculo-vertebral (Goldenhar) syndrome...
- Distraction osteogenesis in Goldenhar Syndrome: case report and 8-year follow-upMarina de Deus Moura de Lima
Department of Oral Pathology, School of Dentistry, University of Sao Paulo, SP, Brasil
Med Oral Patol Oral Cir Bucal 12:E528-31. 2007b>Goldenhar syndrome is a well-known condition featuring the following triad of anomalies: ocular abnormalities, microtia and vertebral anomalies. This syndrome involves structures arising from the first and second branchial arches...
- Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)M Cristina Digilio
Medical Genetics and Pediatric Cardiology, Bambino Gesu Hospital, Rome, Italy
Am J Med Genet A 146:1815-9. 2008....
- Goldenhar syndrome: clinical features with orofacial emphasisHercilio Martelli
Stomatology Clinic, Dental School, State University of Montes Claros, MG, Brazil
J Appl Oral Sci 18:646-9. 2010b>Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects...
- Spinal anomalies in Goldenhar syndromePeter J Anderson
Cranio Maxillofacial Surgery, Australian Craniofacial Unit, Women s and Children s Hospital, North Adelaide, South Australia
Cleft Palate Craniofac J 42:477-80. 2005b>Goldenhar syndrome consists of the triad of craniofacial microsomia, occular dermoid cysts, and spinal anomalies...
- Goldenhar syndrome among infants born in military hospitals to Gulf War veteransM R Araneta
Naval Health Research Center, Division of Clinical Epidemiology, San Diego, California 92186 5122, USA
Teratology 56:244-51. 1997Reports in the popular press described the occurrence of Goldenhar syndrome among children of Persian Gulf War veterans (GWVs)...
- [Goldenhar syndrome and arachnoid cyst]M J Hajje
Arch Pediatr 10:353-4. 2003
- Clinical-embryological and radiological correlations of oculo-auriculo-vertebral spectrum using 3D-CTD T Santos
Department of Radiology, College of Dentistry, University of Sao Paulo, Sao Paulo, SP, Brazil
Dentomaxillofac Radiol 32:8-14. 2003The purpose of this paper is to present a variety of imaging findings of oculo-auriculo-vertebral spectrum (Goldenhar syndrome) using three-dimensional reconstructed images from computed tomography (3D-CT), associating clinical and ..
- [Multiple accessory tragi and Goldenhar's syndrome]K Khadir
Arch Pediatr 13:1557-8. 2006
- Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)Carsten Bergmann
Institute of Human Genetics, Aachen University of Technology, Germany
Am J Med Genet A 121:151-5. 2003..The present case was instructive to review the continuous spectrum of AMDC related anomalies...
- Congenital mandibular hypoplasia: analysis and classificationDavinder J Singh
Division of Plastic Surgery, University of Pennsylvania School of Medicine, 3400 Spruce Street, Philadelphia, PA 19104, USA
J Craniofac Surg 16:291-300. 2005..Although mandibular hypoplasia is a common craniofacial anomaly, patients manifesting nonsyndromic congenital mandibular hypoplasia are a rare subgroup. Case reports illustrating the range of mandibular deformities are presented...
- Goldenhar syndrome with duodenal atresia: a new findingBulent Hacihamdioglu
Department of Pediatrics, Gulhane Military Medical Academy and Medical Faculty, Ankara, Turkey
Clin Dysmorphol 17:141-2. 2008
- Language, articulation, voice and resonance characteristics in 4 children with Goldenhar syndrome: a pilot studyKristiane M Van Lierde
Department of Speech and Language Pathology, Head and Neck Surgery, Ghent University Hospital, Ghent, Belgium
Folia Phoniatr Logop 56:131-43. 2004..this study was to describe the language, articulation, voice and resonance characteristics in children with Goldenhar syndrome. The 4 Dutch-speaking subjects were 2 boys (age 4.5 and 10.2 years) and 2 girls (aged 5.0 and 5...
- Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS)Karin Kallen
Tornblad Institute, University of Lund, Biskopsgatan 7, 223 62 Lund, Sweden
Am J Med Genet A 127:26-34. 2004..An association between two conditions indicates similarities in pathogenesis or in etiology. We suggest that the connection between OAV and CHARGE could be related to a common pathogenetic mechanism: disturbed neural crest development...
- Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini reviewMarilyn T Miller
Department of Ophthalmology and Visual Sciences, University of Illinois, 1855 West Taylor Street, Rm 327, Chicago, IL 60612, USA
Int J Dev Neurosci 23:201-19. 2005..embryopathy, Mobius sequence with misoprostol) and three (most Mobius sequence cases, CHARGE association, Goldenhar syndrome) with no known etiology...
- Autism with ophthalmologic malformations: the plot thickensMarilyn T Miller
Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, Illinois, USA
Trans Am Ophthalmol Soc 102:107-20; discussion 120-1. 2004..with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study.
- [Epibulbar dermoids--clinical features and therapeutic methods]F Sommer
Klinik und Poliklinik für Augenheilkunde, Medizinische Fakultät der Technischen Universität Dresden
Klin Monbl Augenheilkd 221:872-7. 2004..Intraocular structures are rarely involved. Connections to Goldenhar's oculo-auriculo-syndrome exist. Because of cosmetic reasons or a considerable astigmatism holding the danger of amblyopia a resection might be necessary...
- [Two rare complications in patients with bone-anchored hearing aids]T Deitmer
Hals Nasen Ohrenklinik mit Abteilung für Phoniatrie und Pädaudiologie
Laryngorhinootologie 82:162-5. 2003..With almost completely healed external wound the patient got an intracranial abscess, that needed neurosurgical drainage. After long-time antibiotic treatment the patient is well again...
- Mandibular reconstruction in Goldenhar syndrome using temporalis muscle osteofascial flapHalil Ibrahim Canter
Faculty of Medicine, Department of Plastic and Reconstructive Surgery, Hacettepe University, Ankara, Turkey
J Craniofac Surg 19:165-70. 2008b>Goldenhar syndrome is a well-known developmental anomaly of the maxillofacial skeleton and hemifacial soft tissue...
- Goldenhar-associated conditions (hemifacial microsomia) and congenital deformities of the spineAthanasios I Tsirikos
Scottish National Spine Deformity Center, Royal Hospital for Sick Children, Edinburgh, United Kingdom
Spine (Phila Pa 1976) 31:E400-7. 2006..We performed a retrospective study of 668 consecutive patients with congenital spine deformities...
- Mandibular distraction: evolution of treatment protocols in hemifacial microsomyP Cascone
Department of Maxillofacial Surgery, La Sapienza University of Rome, Rome, Italy
J Craniofac Surg 16:563-71. 2005..In our opinion, guidelines in the indications for distraction are mandatory to select the procedure best suited to the pathologic situation of each individual patient...
- A case of oculo-auriculo-vertebral spectrum with long-term and comprehensive managementNaoto Suda
Maxillofacial Orthognathics, Department of Maxillofacial Reconstruction and Function, Division of Maxillofacial Neck Reconstruction, Graduate School, Tokyo Medical and Dental University, Japan
World J Orthod 7:299-304. 2006..To show that a patient with severe oculo-auriculo-vertebral spectrum can achieve satisfactory occlusion and facial appearance through long-term and comprehensive management...
- Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndromeRika Kosaki
Department of Clinical and Molecular Genetics, National Center for Child Health and Development, Tokyo, Japan
Am J Med Genet A 143:1087-90. 2007..polydactyly, and anteriorly placed anus, whereas the younger sister presented with a phenotype resembling Goldenhar syndrome, including atretic ear canals, mandibular hypoplasia, and right preaxial polydactyly as well as an epibulbar ..
- [Analysis of difficult tracheal intubation in patients with first and second brachial arch syndrome]M Hirata
Department of Anesthesiology, Kanagawa Children's Medical Center, Kanagawa 232-8555
Masui 50:986-90. 2001..But in all the 3 patients with the fusion of cervical spines, intubation was difficult. Therefore, we must perform radiographic assessment of the fusion of the cervical spine...
- Goldenhar syndrome: a case from Papua New GuineaThain Siong Tay
Department of Ophthalmology, Concord Hospital, Sydney, New South Wales, Australia
Clin Experiment Ophthalmol 32:75-7. 2004b>Goldenhar syndrome is well known for its classical triad of epibulbar dermoids or lipodermoids, auricular appendages and pretragal fistulas...
- Right pulmonary agenesis with ipsilateral microtia: a new laterality association or part of the oculoauriculovertebral spectrum?Donatella Milani
Prenat Diagn 22:1053-4; author reply 1054-5. 2002
- Inner ear abnormalities in patients with Goldenhar syndromeSotirios Bisdas
Department of Neuroradiology, Hannover Medical School, Hannover, Germany
Otol Neurotol 26:398-404. 2005The objective of this study is to investigate the inner ear malformations in patients with Goldenhar syndrome and to hypothesize the potential embryopathogenesis of these malformations.
- Trigeminal nerve hypoplasia and aplasia in children with goldenhar syndrome and corneal hypoesthesiaOlga Villanueva
Emory Eye Center, Emory University, 1365 B Clifton Road NE, Atlanta, GA 30322, USA
J AAPOS 9:202-4. 2005
- Delayed presentation of pseudoaneurysm after Le Fort I osteotomyJames P Bradley
Division of Plastic and Reconstructive Surgery, The University of California, Los Angeles, Los Angeles, California, USA
J Craniofac Surg 13:746-50. 2002..sagittal-split osteotomies for correction of mandibular and maxillary asymmetries in a patient with Goldenhar syndrome. This was recognized 8 months after the procedure when the patient developed acute facial swelling and ..
- The use of distraction osteogenesis to treat hemifacial microsomia: a clinical reportJennifer L Wiens
School of Dentistry, University of Detroit Mercy, Mich, USA
J Prosthet Dent 89:11-4. 2003..After treatment, the patient had a more rounded facial contour and corrected occlusal plane...
- [External ear duplication, a rare branchial arch abnormality]V Baschek
Laryngorhinootologie 85:861. 2006
- Severe abnormalities of the pons in two infants with goldenhar syndromeM Pane
Department of Child Neurology and Psychiatry, Catholic University, Rome, Italy
Neuropediatrics 35:234-8. 2004We describe 2 cases of Goldenhar syndrome with severe abnormalities of the pons. The first case is a 10-month-old Caucasian female infant...
- Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjectsAli Al Kaissi
Osteology research, Ludwig Boltzmann Institute of Osteology, Hanusch Hospital, Heinrich Collin Str 30, 1140, Vienna, Austria
Eur Spine J 16:265-70. 2007..anterior and posterior arch of the atlas beyond the age of 3-4 years is observed in skeletal dysplasias, Goldenhar syndrome, Conradi syndrome, and Down's syndrome...
- Associated malformations in cases with congenital diaphragmatic herniaC Stoll
Génétique Médicale, Faculte de Medecine, Strasbourg, France
Genet Couns 19:331-9. 2008..syndromes (Fryns syndrome, fetal alcohol syndrome, De Lange syndrome, CHARGE syndrome, Fraser syndrome, Goldenhar syndrome, Smith-Lemli-Opitz syndrome, multiple pterygium syndrome, Noonan syndrome, and spondylocostal dysostosis); ..
- Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?Dagmar Wieczorek
Institut fur Humangenetik, Universitatsklinikum Essen, Germany, and Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
Am J Med Genet A 143:1135-42. 2007..few overlapping clinical features, but these diagnoses are unlikely as the clinical findings are unusual for Goldenhar syndrome and mutational screening of the MYCN, the CHD7, and the TCOF1 genes did not reveal any abnormalities...
- A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasoundMairead M Kennelly
Department of Fetal Medicine, Leazes Wing, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP
Prenat Diagn 27:730-7. 2007..To review the antenatal diagnosis of Radial Ray Defects (RRD) in a tertiary referral fetal medicine unit & to set out a clinical algorithm to aid assessment and management...
- Pierre Robin sequence associated with first trimester fetal tamoxifen exposureJoel C Berger
University of New Mexico School of Medicine, Albuquerque, New Mexico 87131 0001, USA
Am J Med Genet A 146:2141-4. 2008..Cullins' case of Goldenhar syndrome is also a craniofacial disorder and thus represented the third such case...
- Effect of mandibular distraction osteogenesis on developing molarsM Kleine-Hakala
Department of Plastic Surgery, Helsinki University Central Hospital, Helsinki, Finland
Orthod Craniofac Res 10:196-202. 2007..To observe the effect of mandibular distraction osteogenesis (DO) on developing molars...
- Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)Rafael Fabiano Machado Rosa
Santa Casa Hospital Complex of Porto Alegre, Federal University of Health Sciences of Porto Alegre, Porto Alegre, RS, Brazil
Arq Neuropsiquiatr 68:98-102. 2010..To describe the central nervous system (CNS) alterations present in a sample of oculo-auriculo-vertebral spectrum (OAVS) patients, trying to correlate them with other clinical features...
- Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvementP Rubegni
Department of Dermatology, University of Siena, Siena, Italy
Clin Exp Dermatol 28:387-90. 2003..mosaic neurocutaneous phenotypes such as as Delleman syndrome, Schimmelpenning syndrome, Goltz syndrome, Goldenhar syndrome and Proteus syndrome...
- Preoperative evaluation of limbal dermoids using high-resolution biomicroscopyJ P Hoops
Ludwig Maximilians University, University Eye Hospital, Munich, Germany
Graefes Arch Clin Exp Ophthalmol 239:459-61. 2001..It remains unclear whether examination by ultrasound biomicroscopy (UBM) can detect the corneal depth of penetration which would improve planning of surgery...
- Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junctionArnold H Menezes
Department of Neurosurgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, 1824 JPP, Iowa, IA 52242, USA
Childs Nerv Syst 24:1155-63. 2008..Abnormal development of any of these components may lead to altered structure, and therefore, altered function in the central nervous system...
- Case report: intracranial placement of a nasotracheal tube in a patient with Goldenhar syndrome associated with cribriform plate agenesisFrederick Allen
Department of Anesthesiology, Hospital of University of Pennsylvania, 3400 Spruce St, Philadelphia, PA 19104, USA
Anesth Analg 112:198-200. 2011..of a nasotracheal tube in a patient with an undiagnosed major congenital cranial anomaly (a variant of Goldenhar syndrome, which included absence of the cribriform plate)...
- Craniofacial, skeletal, and cardiac defects associated with altered embryonic murine Zic3 expression following targeted insertion of a PGK-NEO cassetteLirong Zhu
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Front Biosci 12:1680-90. 2007..low set ears, axial skeletal defects, kyphosis and scoliosis; a combination of defects which mimics Goldenhar Syndrome. Some Zic3(neo) mice had evidence of left-right axis patterning defects, but cardiac malformation was much ..
- Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?A F Brady
Kennedy Galton Centre, North West London Hospitals NHS Trust, Middlesex, HA1 3UJ, UK
Clin Dysmorphol 11:155-61. 2002..1968) J Pediatr 72 : 88-93] and overlap with those found in Goldenhar syndrome and Mullerian duct/renal aplasia/cervicothoracic somite dysplasia (MURCS), CHARGE and VATER associations...
- Congenital eyelid colobomas in 51 patientsAshok Kumar Grover
Department of Ophthalmology, Sir Ganga Ram Hospital, New Delhi, India
J Pediatr Ophthalmol Strabismus 46:151-9. 2009..To review the clinical observations in the management of congenital eyelid coloboma...
- Non-syndromic supernumerary caruncles causing ocular irritation after cataract surgery: a critical review of caruncular dysgenesesFrederick A Jakobiec
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary and Harvard Medical School, Boston, Massachusetts 02114, USA
Am J Ophthalmol 149:398-404.e1-2. 2010..To describe a patient with 2 ipsilateral supernumerary caruncles and to determine if they are predictive of associated abnormalities...
- Ophthalmological findings in children born after intracytoplasmic sperm injectionMargareta Hök Wikstrand
Department of Ophthalmology, Sahlgrenska University Hospital, Gothenburg, Sweden
Acta Ophthalmol Scand 84:177-81. 2006..To investigate visual function and ocular morphology in children born after intracytoplasmic sperm injection (ICSI) and compare them with visual function and ocular morphology in matched children born after spontaneous conception...
- Molecular analysis of SALL1 mutations in Townes-Brocks syndromeJ Kohlhase
Institute for Human Genetics, University of Gottingen, Gosslerstr 12d, D 37073Göttingen, Germany
Am J Hum Genet 64:435-45. 1999..We also present evidence that in rare cases SALL1 mutations can lead to phenotypes similar to Goldenhar syndrome. However, phenotypic differences in TBS do not seem to depend on the site of mutation.
- Accessory tragus: report of two cases and review of the literatureT Jansen
Department of Dermatology, Ruhr-University Bochum, Germany
Pediatr Dermatol 17:391-4. 2000..Accessory tragus is a consistent feature of the oculoauriculovertebral syndrome (Goldenhar syndrome)...
- Familial occurrence of isolated accessory tragiG Tadini
1st Department of Dermatology and Pediatric Dermatology, University of Milan, Italy
Pediatr Dermatol 10:26-8. 1993Three sibs were affected by numerous accessory tragi. On clinical examination, no other associated developmental defects, such as the Goldenhar syndrome, were detected.
- Prevalence of Oculo-auriculo-vertebral Spectrum in DermolipomaJwu Jin Khong
Royal Victorian Eye and Ear Hospital, Orbital Plastics and Lacrimal Unit, East Melbourne, Victoria, Australia
Ophthalmology 120:1529-32. 2013..To describe the observed frequency of oculo-auriculo-vertebral spectrum (OAVS) in patients with dermolipoma...
- First description of unilateral lung agenesis and anomalous pulmonary venous connection in a newborn with Goldenhar syndromeMarkus Fischer
Department of Pediatric Cardiology, Children s University Hospital, Heidelberg, Germany
Cardiol Young 22:344-5. 2012We present a unique case of unilateral lung agenesis and anomalous pulmonary venous return in a newborn with Goldenhar syndrome.
- Airway management for rigid bronchoscopy via a freshly performed tracheostomy in a child with Goldenhar syndromeZulfiqar Ahmed
Anesthesia Associates of Ann Arbor Oakwood Hospital, Dearborn, MI 48124, USA
J Clin Anesth 24:234-7. 2012A case of tooth aspiration in a 6 year old boy with Goldenhar syndrome and known difficult intubation is presented. A fresh tracheostomy was performed after a failed fiberoptic intubation and dental aspiration...
- Partial trisomy (11;22) syndrome with manifestations of Goldenhar sequence due to maternal balanced t(11;22)S Balci
Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Dogramaci Children s Hospital, Sihhiye, Ankara, Turkey
Genet Couns 17:281-9. 2006..Maternal balanced translocation t(11;22)(q23;q11) causing Goldenhar syndrome with 47,XX,+der(22) has not been reported previously...
- Pseudotumor cerebri in a patient with Goldenhar's and Duane's syndromesOliver Tillman
Department of Ophthalmology, Kantonsspital Aarau, Switzerland
Ophthalmologica 216:296-9. 2002..Papilledema resolved over the next 2 months. To the best of our knowledge, this is the first case of Goldenhar's syndrome associated with pseudotumor cerebri...
- Unilateral sclerocornea and tracheal stenosis: unusual findings in a patient with Goldenhar anomalyLarissa V Furtado
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA
Fetal Pediatr Pathol 30:397-404. 2011..We report the pathologic findings in a 5-month-old boy with GA, tracheal stenosis, and left unilateral sclerocornea. To the best of our knowledge this is the first description of sclerocornea in a patient with GA...
- A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome?J Xu
Cytogenetics Lab, London Health Sciences Centre, University of Western Ontario, Canada
Am J Med Genet A 146:1886-9. 2008
- Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996-2002Tasneem Husain
Division of Health Promotion and Behavioral Sciences, University of Texas Health Science Center at Houston, School of Public Health, 1200 Herman Pressler, Houston, Texas 77054, USA
Birth Defects Res A Clin Mol Teratol 82:435-40. 2008..In utero vascular disruptions are thought to be associated with a variety of birth defects. This study examined the descriptive epidemiology of several of those defects using data from a large birth defects registry...
- Characterizing the oculoauriculofrontonasal syndromeMichael T Gabbett
Genetic Health Queensland, Royal Children s Hospital, University of Queensland, Brisbane, Queensland, Australia
Clin Dysmorphol 17:79-85. 2008....
- Marriage of hard and soft tissues of the face revisited: when distraction meets microsurgeryJason A Spector
Division of Plastic Surgery, The Weill Medical College of Cornell University, 525 East 68th Street, New York, NY 10021, USA
Ann Plast Surg 59:1-5; discussion 5. 2007..For these patients, the union of distraction osteogenesis and microvascular free flaps (MVFF) can restore bone and soft tissue form and function...
- Temporal bone changes in patients with Goldenhar syndrome with special emphasis on inner ear abnormalitiesFlorian Hennersdorf
Department of Diagnostic and Interventional Neuroradiology, Hoppe Seyler Straße 3 and Department of Otorhinolaryngology, Elfriede Aulhorn Straße 5, Tubingen, Germany
Otol Neurotol 35:826-30. 2014b>Goldenhar syndrome is a developmental disorder presenting with orofacial and vertebral anomalies, which are also accompanied by abnormalities in other organs...
- Preterm diagnosis of choristoma and choroidal coloboma in Goldenhar's syndromeMartina C Herwig
Department of Ophthalmology, University of Bonn, Ernst Abbe Str 2, Bonn, Germany
Pediatr Dev Pathol 14:322-6. 2011..A discussion of differential diagnoses is provided, confirming that the ophthalmopathological investigation of fetal eyes can be of great value for classifying syndromes associated with microphthalmia...
- Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrumCaroline Rooryck
Laboratoire de Génétique Humaine EA4137, Universite Victor Segalen Bordeaux 2, Bordeaux, France
Am J Med Genet A 152:1984-9. 2010..7 kb to 2.3 Mb. We discuss the potential pathogenic role of these chromosomal aberrations, and describe new candidate regions for OAVS...
- Restoration of facial symmetry in hemifacial microsomia with mandibular outer cortex bone grafting combined with distraction osteogenesisLai Gui
Department of Craniomaxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Science, Peking Union Medical College, Beijing, People s Republic of China
Plast Reconstr Surg 127:1997-2004. 2011..Therefore, the authors used mandibular outer cortex bone grafting to augment the lower face following distraction to restore facial symmetry...
- The use of TMJ Concepts prostheses to reconstruct patients with major temporomandibular joint and mandibular defectsA Westermark
Department of Maxillofacial Surgery, Karolinska University Hospital, Stockholm, Sweden
Int J Oral Maxillofac Surg 40:487-96. 2011..The authors' clinical experience with these cases suggests that a customized prosthesis combined with TMJ reconstruction can be a reliable treatment alternative for bridging complex, major maxillo-mandibular defects...
- Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eyeT Ghi
Prenat Diagn 28:362-3. 2008
- Goldenhar's syndrome: congenital hearing deficit of conductive or sensorineural origin? Temporal bone histopathologic studyA W Scholtz
Department of Otolaryngology, University of Innsbruck, Innsbruck, Austria
Otol Neurotol 22:501-5. 2001....
- Tracheal intubation using suspension laryngoscopy in an infant with Goldenhar's syndromeP P Chen
Department of Anaesthesiology, Intensive Care and Operating Services, Alice Ho Miu Ling Nethersole Hospital, Tai Po, Hong Kong
Anaesth Intensive Care 29:548-51. 2001..We propose this technique as an alternative method for tracheal intubation in infants and young children with a difficult airway. The management of the difficult airway in children with Goldenhar's syndrome is discussed...
- Oculoauriculovertebral spectrum in an infant of diabetic motherLong Tai Chen
Department of Pediatrics, Taipei Municipal Yang Ming Hospital, Taipei, Taiwan
Acta Paediatr Taiwan 45:346-9. 2004..The possible association of oculoauriculovertebral spectrum and maternal diabetes is discussed, and the literature is reviewed...
- Nuchal translucency in multiple pregnanciesG Monni
Department of Obstetrics and Gynecology, Prenatal and Preimplantation Genetic Diagnosis, Fetal Therapy, Ospedale Regionale per le Microcitemie, Via Jenner 09121 Cagliari, Italy
Croat Med J 41:266-9. 2000..To evaluate the prevalence of increased nuchal translucency (NT) in multiple pregnancies and its relation to fetal karyotype and pregnancy outcome...
- Cervical spine instability in children with Goldenhar's syndromeDavid Healey
Division of Pediatric Orthopaedics, Children s Hospital of Eastern Ontario, University of Ottawa
Can J Surg 45:341-4. 2002..To study the vertebral involvement of the cervical spine, in particular the stability of C1-C2, in children with proven Goldenhar's syndrome...
- Bone-anchored hearing aid quality of life assessed by Glasgow Benefit InventoryP S Arunachalam
Department of ENT and Audiology, Freeman Hospital, Newcastle upon Tyne, UK
Laryngoscope 111:1260-3. 2001..CONCLUSION: This study is the first to demonstrate significant quality of life benefit from BAHA surgical intervention as measured by the Glasgow Benefit Inventory...
- Vertebral anomalies associated with Goldenhar syndromeHeather C Yun
Department of Internal Medicine, Wilford Hall Medical Center, Lackland Air Force Base, Texas, USA
J Clin Rheumatol 11:283-4. 2005
- Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrumSven Fischer
Institut fur Humangenetik, Universitatsklinikum Essen, 45122 Essen, Germany
Hum Mol Genet 15:581-7. 2006..Prolonged cell culture or treatment with the histone deacetylase inhibitor Trichostatin A led to reactivation of the downregulated allele. We propose that epigenetic dysregulation of BAPX1 plays an important role in OAVS...
- Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approachRaymond Wang
Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA
J Pediatr 141:611-7. 2002..To determine if infants of diabetic mothers (IDM) are at increased risk for dysplastic ears and the oculoauriculo-vertebral spectrum (OAVS)...
- Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)Marco Castori
IRCCS CSS San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
Am J Med Genet A 140:1573-9. 2006..In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition...
- A novel association in a family with oculo-auriculo-vertebral spectrum and x-linked ichthyosisM R Rivera-Vega
Pediatr Dermatol 20:182-4. 2003
- Common craniofacial anomalies: the facial dysostosesJeremy A Hunt
Department of Plastic and Reconstructive Surgery, University of Texas Southwestern Medical Center, 411 N Washington Avenue, Dallas, TX 75246, USA
Plast Reconstr Surg 110:1714-25; quiz 1726; discussion 1727-8. 2002..Conditions discussed include craniofacial microsomia, Goldenhar syndrome, Treacher Collins syndrome, Nager syndrome, Binder syndrome, and Pierre Robin sequence...
- Goldenhar's syndrome--case reportAntonio Luiz Barbosa Pinheiro
Laser Center, School of Dentistry, Federal University of Bahia UFBA, Salvador, BA, Brazil
Braz Dent J 14:67-70. 2003..This work reports a case of Goldenhar's syndrome in an 11-year-old female, who presented all classical signs of this rare condition..
- Five years experience with a new intraoral maxillary distraction device (RID)Arnaud Picard
AP HP, Hopital d Enfants Armand Trousseau, Service de Chirurgie Maxillo Faciale et Chirurgie Plastique, Paris, F 75012, France
Br J Oral Maxillofac Surg 49:546-51. 2011..The new device limited surgical exposure and the amount of materials implanted, and improved control in every phase of the distraction. It was psychologically accepted by patients and was more comfortable than existing devices...
- Dental development in hemifacial microsomiaE M Ongkosuwito
Department of Orthodontics, Cleft Palate Team and Craniofacial Team, Erasmus MC Sophia, University Medical Center, Room Sp 1408, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands
J Dent Res 89:1368-72. 2010..The temporary delay of tooth formation in patients with severe forms of HFM and the distribution of agenic teeth suggest an interaction between mandibular and dental development...
- Heritability of Oculo-Auriculo-Vertebral SpectrumRichard Ward; Fiscal Year: 2002..Oculo-auriculo vertebral spectrum (OAVS) is a complex and variable set of conditions including Goldenhar syndrome and Hemifacial microsomnia that share ear, eye and cervical vertebrae anomalies often expressed unilaterally...
- LOW SET EARS--A DOMINANT BRANCHIAL ARCH DISORDER IN MICEERIC EVERETT; Fiscal Year: 1999..spectrum (OAVS) represents a wide range of anomalies and malformations that encompass hemifacial microsomia, Goldenhar syndrome, first arch syndrome, first and second branchial arch syndrome, oculo-auriculo-vertebral dysplasia, axial ..
- Prosodic Impairment and Speech Intelligibility in Perso*Kate Bunton; Fiscal Year: 2005..Enhancing the F0 contour to include the peaks and valleys typical in normal speakers will decrease segment error rates. ..