Summary: Mandibulofacial dysostosis with congenital eyelid dermoids.
Publications132 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 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)...
- 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...
- 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...
- 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
- 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.
- 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...
- 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...
- 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...
- 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..Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian MÃ¶bius 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...
- 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...
- Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrumP Martinelli
Prenatal Diagnosis Unit, Department of Gynecology and Obstetrics, University Federico II of Naples, Naples, Italy
Ultrasound Obstet Gynecol 24:199-201. 2004Oculoauriculovertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies...
- 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...
- 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...
- Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classificationChristiane Tasse
, , Hufelandstr. 55, 45122 Essen, Germany
Eur J Med Genet 48:397-411. 2005....
- 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...
- 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...
- Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eyeT Ghi
Prenat Diagn 28:362-3. 2008
- 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 ..
- 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....
- 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...
- 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
- [External ear duplication, a rare branchial arch abnormality]V Baschek
Laryngorhinootologie 85:861. 2006
- 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....
- [Multiple accessory tragi and Goldenhar's syndrome]K Khadir
Arch Pediatr 13:1557-8. 2006
- 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...
- The influence of craniofacial growth in a case of transverse facial cleftAntje Kirbschus
Department of Orthodontics, Preventive and Pediatric Dentistry, Center of Oral Health, University of Greifswald, Greifswald, Germany
J Orofac Orthop 67:215-24. 2006....
- 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...
- 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...
- [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...
- 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 ..
- [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...
- 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...
- Caruncle abnormalities in the oculo-auriculo-vertebral spectrumNavdeep Nijhawan
Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet 113:320-5. 2002b>Goldenhar syndrome (GS) is a congenital disorder believed to be caused by the defective development of the first and second brachial arches and the first brachial clefts during the fourth through eighth weeks of embryologic development...
- 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
- 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...
- 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..
- A novel association in a family with oculo-auriculo-vertebral spectrum and x-linked ichthyosisM R Rivera-Vega
Pediatr Dermatol 20:182-4. 2003
- Anaesthetic approach in a case of Goldenhar's syndromeC Kaymak
Eur J Anaesthesiol 19:836-8. 2002
- Clinical-embryological and radiological correlations of oculo-auriculo-vertebral spectrum using 3D-CTD T Santos
Department of Radiology, College of Dentistry, , , SP, Brazil
Dentomaxillofac Radiol 32:8-14. 2003..The 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 ..
- Goldenhar's syndrome associated with occipital meningoencephalocele--case reportDaisuke Kita
Department of Neurosurgery, Ishikawa Central Prefectural Hospital, Kanazawa
Neurol Med Chir (Tokyo) 42:354-5. 2002..The patient died of heart failure due to ventricular septal defect at age 5 months...
- 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)...
- [Goldenhar syndrome and arachnoid cyst]M J Hajje
Arch Pediatr 10:353-4. 2003
- 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....
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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 ..
- 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)...
- 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...
- 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...
- 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...
- 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...
- Case report: Goldenhar syndrome following donor oocyte IVFVictoria Gittins
Shropshire and Mid Wales Fertility Centre, Shrewsbury and Telford Hospitals NHS Trust, UK
J Assist Reprod Genet 27:561-3. 2010To describe a case of Goldenhar syndrome in a couple receiving donated oocytes in an 'egg sharing' IVF cycle where the recipient of donor oocytes had Turner syndrome, hypothyroidism and gestational diabetes.
- 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...
- 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.
- Clinical analysis based on 208 patients with microtia (especially reviewed oculo-auriculo-vertebral spectrum, hearing test, CT scan)Lei Jin
Department of Otorhinolaryngology, Head and Neck Surgery, Eye and ENT Hospital of Fudan University, Shanghai, China
Turk J Pediatr 52:582-7. 2010..05); and that there was a male predominance, with the right side more likely to be affected...
- Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndromeP Callier
Département de génétique, Hopital Le Bocage, Dijon, France
Am J Med Genet A 146:2109-15. 2008..The phenotype was compatible with Goldenhar syndrome despite the absence of asymmetric ears...
- 2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate geneCaroline Rooryck
Laboratoire de Génétique Humaine EA4137, Universite Victor Segalen Bordeaux 2, France
Eur J Med Genet 52:446-9. 2009..We speculate that the phenotype of our patient may be explained by the combined effect of the loss of several of the genes contained in the deleted chromosomal segment and of the inactivation of CACNA1C...
- Intraoperative neurophysiological monitoring during complex spinal deformity cases in pediatric patients: methodology, utility, prognostication, and outcomeJames Drake
Division of Neurosurgery, Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, ON, Canada
Childs Nerv Syst 26:523-44. 2010..While these problems are rare, decompression, correction, instrumentation, and fusion are quite hazardous. Intraoperative neurophysiological monitoring (IONM) seems particularly beneficial in these patients...
- Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndromeJill K Northup
Department of Pathology, University of Texas Medical Branch, Galveston, Texas, USA
Clin Dysmorphol 19:185-9. 2010b>Goldenhar syndrome, also called hemifacial microsomia or oculo-auriculo-verterbal dysplasia (OAVS) (MIM 164210), is a birth defect involving the first and second branchial arch derivatives with an incidence of 1/5000...
- Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangementZhishuo Ou
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet A 146:2480-9. 2008..Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. We propose that the increased dosage of SIX1, SIX6, or OTX2 may be responsible for the BOR and OAVS-like features in this family...
- Phenotypic variability of distal 22q11.2 copy number abnormalitiesTiong Yang Tan
Genetic Health Services Victoria, Melbourne, Australia
Am J Med Genet A 155:1623-33. 2011..We describe the third distal chromosome 22q11.2 microdeletion patient with Goldenhar syndrome. Patients with distal chromosome 22q11...
- 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 ..
- Goldenhar syndrome with unusual association of pre-axial polydactylyDeepak Mishra
Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Sheikhpura, Patna India
Eur J Ophthalmol 19:1063-4. 2009b>Goldenhar syndrome is a multiorgan involvement affecting mainly the eyes, auricle, and oral cavity. METHOD. Case report.
- A review of physical, behavioral, and oral characteristics associated with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndromeCarlton V Horbelt
Division of Pediatric and Community Oral Health, University of Tennessee College of Dentistry, Memphis, USA
Gen Dent 56:416-9. 2008
- Microvascular free flaps for mandibular reconstruction in Goldenhar syndromeCornelia Katharina Mueller
Department of Oral and Maxillofacial Surgery Plastic Surgery, University Hospital Jena, Jena, Germany
J Craniofac Surg 22:1161-3. 2011Although Goldenhar syndrome is a relatively common craniofacial malformation, there is some debate regarding the ideal treatment of severe mandibular hypoplasia...
- Craniofacial and dental characteristics of Goldenhar syndrome: a report of two casesElif B Tuna
Department of Pedodontics, Istanbul University, Istanbul, Turkey
J Oral Sci 53:121-4. 2011We describe the dental and craniofacial anomalies of 2 ethnically distinct patients with Goldenhar syndrome, which is characterized by hemifacial microsomia, facial asymmetry, and ear and dental abnormalities...
- Treatment of otological features of the oculoauriculovertebral dysplasia (Goldenhar syndrome)Henryk Skarzynski
International Center of Hearing and Speech of the Institute of Physiology and Pathology of Hearing, Warsaw Kajetany, Poland
Int J Pediatr Otorhinolaryngol 73:915-21. 2009..The aim of this report was to present algorithm for diagnostics and treatment of symptoms of Goldenhar syndrome (GS) based upon methodology used in modern otosurgery.
- 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...
- Genetics of microtia and associated syndromesF Alasti
Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Belgium
J Med Genet 46:361-9. 2009..The focus of this review is to discuss the genetic aspects of microtia and associated syndromes. The clinical aspects of various disorders involving microtia are also discussed in relation to the genes that are causing them...
- A simple technique for determining velopharyngeal status during speech productionKate Bunton
Department of Speech, Language, and Hearing Sciences, University of Arizona, Tucson, Arizona, USA
Semin Speech Lang 32:69-80. 2011..By monitoring the N-RamP signal, it is possible to determine the status of the velopharyngeal port (open or closed) during speech production. Four case examples are presented to support its clinical value...
- Cleft lip and palate: association with other congenital malformationsSoraya Beriaghi
Cleft Palate and Craniofacial Clinic, Division of Pediatric Dentistry School of Dentistry, University of Minnesota, Minneapolis, MN 55455, USA
J Clin Pediatr Dent 33:207-10. 2009..Orofacial clefts are frequently associated with other congenital malformations. Studies vary in incidence and types of anomalies...
- Genome-wide scanning reveals complex etiology of oculo-auriculo-vertebral spectrumXue shuang Huang
Department of Medical Genetics, Huaihua School of Medicine, Huaihua, PR China
Tohoku J Exp Med 222:311-8. 2010....
- Association of assisted reproductive technology with twinning and congenital anomaliesSevim Balci
Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Dogramaci Childrens Hospital, Ankara, Turkey
Indian J Pediatr 75:638-40. 2008..We present three cases with Goldenhar syndrome (one of them a twin pair) and one case with Rubinstein-Taybi syndrome (RTS), also a twin pair...
- Oculoauriculovertebral complex with an atypical cause of obstructive sleep apneaKonstantinos Kourelis
Department of Head and Neck Surgery, University Hospital of Patras, Rio, Patras, Greece
Int J Pediatr Otorhinolaryngol 73:481-5. 2009..The extended craniofacial abnormalities manifested here, suggest a broader developmental impairment, exceeding the 1st and 2nd branchial arch malformation theory, which is the principal hypothesis for OAVS etiology...
- Tongue dysmorphology in craniofacial microsomiaElliott H Chen
Division of Plastic Surgery, The Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA
Plast Reconstr Surg 124:583-9. 2009..This review focuses on the true prevalence of tongue dysmorphology in craniofacial microsomia and its relation to the deformities seen in this condition...
- 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...
- Progressive noninfectious anterior vertebral fusion in a girl with axial mesodermal dysplasia spectrumAli Al Kaissi
Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 4th Medical Department, Hanusch Hospital, Vienna, Austria
Clin Dysmorphol 17:65-8. 2008..Her parents were first cousins. Her facial dysmorphism was compatible with Goldenhar syndrome and in addition, she had anterior noninfectious vertebral fusions of the cervical and the thoracolumbar ..
- Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresiaChristian T Thiel
Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Germany
Clin Dysmorphol 14:67-71. 2005..arch anomalies have been described as distinct entities, including Treacher-Collins-Franceschetti syndrome, Goldenhar syndrome, Nager syndrome and Miller syndrome...
- [Syndromic autism: II. Genetic syndromes associated with autism]J Artigas-Pallares
Hospital de Sabadell Corporacio Sanitaria Parc Tauli, 08208 Sabadell, Espana
Rev Neurol 40:S151-62. 2005..In this study we report on the different genetic syndromes in which autism has been described as one of the possible manifestations...
- Gulf War veterans and hemifacial microsomiaMartha M Werler
Slone Epidemiology Center, Boston University, Boston, Massachusetts 02215, USA
Birth Defects Res A Clin Mol Teratol 73:50-2. 2005Concerns have been raised that more infants with Goldenhar syndrome were born to U.S. Gulf War veterans than expected. Goldenhar syndrome is considered a variant of the malformation hemifacial microsomia (HFM)...
- Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangementDragana J Josifova
Department of Clinical Genetics, St. George's Hospital Medical School, Cranmer Terrace, London, UK
Clin Dysmorphol 13:151-3. 2004We present two siblings with oculoauriculovertebral spectrum phenotype (Goldenhar syndrome) and an unbalanced translocation t(5;8)(p15.31;p23.1) resulting in monosomy for the region 5p15.31 to 5pter and trisomy for 8p23.2 to 8pter region...
- [Pre-auricular tumors in an infant. Differential diagnosis of neuroectodermal syndromes]W H Boehncke
Zentrum der Dermatologie und Venerologie, Johann Wolfgang Goethe Universitat, Frankfurt am Main
Hautarzt 55:749-51. 2004..Neuroectodermal syndromes are complex because of their rarity and overlapping clinical manifestations making differential diagnosis problematic...
- MSM - Multiscale Studies of Segmentation in Vertebrate *JAMES GLAZIER; Fiscal Year: 2007..spondylocostal dysostosis.Jarcho-Levin syndrome, congenital scoliosis and kyphosis, Goldenhar syndrome, and spina bifida, among others disorders...
- 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...
- BURPPE:BU Reproductive, Perinatal, and Pediatric Epidemiology Training ProgramMartha Werler; Fiscal Year: 2007....
- Dietary Glycemic Load, Obesity, and Birth Defect RisksMartha Werler; Fiscal Year: 2007....
- 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. ..