goldenhar syndrome

Summary

Summary: Mandibulofacial dysostosis with congenital eyelid dermoids.

Top Publications

  1. ncbi Goldenhar's syndrome associated with multiple congenital abnormalities
    Suleyman Bayraktar
    Haseki Research and Education Hospital, Istanbul, Turkey
    J Trop Pediatr 51:377-9. 2005
  2. ncbi Goldenhar syndrome with various clinical manifestations
    Radomír Kokavec
    Department of Plastic and Reconstructive Surgery, Comenius University, Bratislava, Slovak Republic
    Cleft Palate Craniofac J 43:628-34. 2006
  3. ncbi Clinical manifestations in 17 Greek patients with Goldenhar syndrome
    V Touliatou
    Medical Genetics Laboratory, University of Athens, Aghia Sophia Children s Hospital, Greece
    Genet Couns 17:359-70. 2006
  4. ncbi Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Hufelandstr 55, 45122, Essen, Germany
    Hum Genet 121:369-76. 2007
  5. ncbi Goldenhar syndrome in association with agenesia of the internal carotid artery
    Giuseppina Ottaviano
    Audiology and E N T Department, University of Ferrara, Ferrara, Italy
    Int J Pediatr Otorhinolaryngol 71:509-12. 2007
  6. ncbi Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literature
    Frederick A Jakobiec
    Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA
    Surv Ophthalmol 55:78-84. 2010
  7. ncbi [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
  8. ncbi Atypical goldenhar syndrome: a case report
    Ashok 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. 2006
  9. ncbi 31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings
    O Engiz
    Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Dogramaci Children s Hospital, Ankara, Turkey
    Genet Couns 18:277-88. 2007
  10. ncbi 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

Detail Information

Publications179 found, 100 shown here

  1. ncbi Goldenhar's syndrome associated with multiple congenital abnormalities
    Suleyman 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...
  2. ncbi Goldenhar syndrome with various clinical manifestations
    Radomír Kokavec
    Department of Plastic and Reconstructive Surgery, Comenius University, Bratislava, Slovak Republic
    Cleft Palate Craniofac J 43:628-34. 2006
    Four case reports of children with clinical features of Goldenhar syndrome are described...
  3. ncbi Clinical manifestations in 17 Greek patients with Goldenhar syndrome
    V 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...
  4. ncbi Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome
    Dagmar 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)...
  5. ncbi Goldenhar syndrome in association with agenesia of the internal carotid artery
    Giuseppina Ottaviano
    Audiology and E N T Department, University of Ferrara, Ferrara, Italy
    Int J Pediatr Otorhinolaryngol 71:509-12. 2007
    The 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...
  6. ncbi Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literature
    Frederick 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 ..
  7. ncbi [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 ..
  8. ncbi Atypical goldenhar syndrome: a case report
    Ashok 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. 2006
    A 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...
  9. ncbi 31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings
    O Engiz
    Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Dogramaci Children s Hospital, Ankara, Turkey
    Genet Couns 18:277-88. 2007
    b>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...
  10. ncbi 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...
  11. ncbi Craniofacial features in Goldenhar syndrome
    C 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. 2009
    b>Goldenhar syndrome also known as oculo-auriculo-vertebral syndrome was first reported by Dr Maurice Goldenhar in 1952...
  12. ncbi Goldenhar syndrome with unusual features
    Bijal 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. 2008
    We 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...
  13. ncbi Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification
    Christiane Tasse
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr 55, 45122 Essen, Germany
    Eur J Med Genet 48:397-411. 2005
    ....
  14. ncbi Microvascular temporomandibular joint and mandibular ramus reconstruction in hemifacial microsomia
    S 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)...
  15. ncbi 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...
  16. ncbi Congenital deformities and developmental abnormalities of the mandibular condyle in the temporomandibular joint
    Keiseki 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...
  17. ncbi Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors
    Kerstin 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...
  18. ncbi Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature
    Siulan 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...
  19. ncbi 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. 2010
    b>Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a complex, heterogeneous condition characterized by abnormal prenatal development of facial structures...
  20. ncbi Goldenhar syndrome associated with growth hormone deficiency
    A M Yusufoğlu
    Ankara Diskapi Children s Hospital, Ankara, Turkey
    Genet Couns 19:173-6. 2008
    b>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...
  21. ncbi Distraction osteogenesis in Goldenhar Syndrome: case report and 8-year follow-up
    Marina 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. 2007
    b>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...
  22. ncbi 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
    ....
  23. pmc Goldenhar syndrome: clinical features with orofacial emphasis
    Hercilio Martelli
    Stomatology Clinic, Dental School, State University of Montes Claros, MG, Brazil
    J Appl Oral Sci 18:646-9. 2010
    b>Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects...
  24. ncbi Spinal anomalies in Goldenhar syndrome
    Peter 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. 2005
    b>Goldenhar syndrome consists of the triad of craniofacial microsomia, occular dermoid cysts, and spinal anomalies...
  25. ncbi Goldenhar syndrome among infants born in military hospitals to Gulf War veterans
    M R Araneta
    Naval Health Research Center, Division of Clinical Epidemiology, San Diego, California 92186 5122, USA
    Teratology 56:244-51. 1997
    Reports in the popular press described the occurrence of Goldenhar syndrome among children of Persian Gulf War veterans (GWVs)...
  26. ncbi [Goldenhar syndrome and arachnoid cyst]
    M J Hajje
    Arch Pediatr 10:353-4. 2003
  27. ncbi Clinical-embryological and radiological correlations of oculo-auriculo-vertebral spectrum using 3D-CT
    D T Santos
    Department of Radiology, College of Dentistry, University of Sao Paulo, Sao Paulo, 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 ..
  28. ncbi [Multiple accessory tragi and Goldenhar's syndrome]
    K Khadir
    Arch Pediatr 13:1557-8. 2006
  29. ncbi 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...
  30. ncbi Congenital mandibular hypoplasia: analysis and classification
    Davinder 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...
  31. doi Goldenhar syndrome with duodenal atresia: a new finding
    Bulent Hacihamdioglu
    Department of Pediatrics, Gulhane Military Medical Academy and Medical Faculty, Ankara, Turkey
    Clin Dysmorphol 17:141-2. 2008
  32. ncbi Language, articulation, voice and resonance characteristics in 4 children with Goldenhar syndrome: a pilot study
    Kristiane 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...
  33. ncbi 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...
  34. ncbi Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review
    Marilyn 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...
  35. pmc Autism with ophthalmologic malformations: the plot thickens
    Marilyn 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.
  36. ncbi [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...
  37. ncbi [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...
  38. ncbi Mandibular reconstruction in Goldenhar syndrome using temporalis muscle osteofascial flap
    Halil Ibrahim Canter
    Faculty of Medicine, Department of Plastic and Reconstructive Surgery, Hacettepe University, Ankara, Turkey
    J Craniofac Surg 19:165-70. 2008
    b>Goldenhar syndrome is a well-known developmental anomaly of the maxillofacial skeleton and hemifacial soft tissue...
  39. ncbi Goldenhar-associated conditions (hemifacial microsomia) and congenital deformities of the spine
    Athanasios 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...
  40. ncbi Mandibular distraction: evolution of treatment protocols in hemifacial microsomy
    P 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...
  41. ncbi A case of oculo-auriculo-vertebral spectrum with long-term and comprehensive management
    Naoto 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...
  42. ncbi Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome
    Rika 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 ..
  43. ncbi [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...
  44. ncbi Goldenhar syndrome: a case from Papua New Guinea
    Thain Siong Tay
    Department of Ophthalmology, Concord Hospital, Sydney, New South Wales, Australia
    Clin Experiment Ophthalmol 32:75-7. 2004
    b>Goldenhar syndrome is well known for its classical triad of epibulbar dermoids or lipodermoids, auricular appendages and pretragal fistulas...
  45. ncbi 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
  46. ncbi Inner ear abnormalities in patients with Goldenhar syndrome
    Sotirios Bisdas
    Department of Neuroradiology, Hannover Medical School, Hannover, Germany
    Otol Neurotol 26:398-404. 2005
    The 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.
  47. ncbi Trigeminal nerve hypoplasia and aplasia in children with goldenhar syndrome and corneal hypoesthesia
    Olga Villanueva
    Emory Eye Center, Emory University, 1365 B Clifton Road NE, Atlanta, GA 30322, USA
    J AAPOS 9:202-4. 2005
  48. ncbi Delayed presentation of pseudoaneurysm after Le Fort I osteotomy
    James 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 ..
  49. ncbi The use of distraction osteogenesis to treat hemifacial microsomia: a clinical report
    Jennifer 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...
  50. ncbi [External ear duplication, a rare branchial arch abnormality]
    V Baschek
    Laryngorhinootologie 85:861. 2006
  51. ncbi Severe abnormalities of the pons in two infants with goldenhar syndrome
    M Pane
    Department of Child Neurology and Psychiatry, Catholic University, Rome, Italy
    Neuropediatrics 35:234-8. 2004
    We describe 2 cases of Goldenhar syndrome with severe abnormalities of the pons. The first case is a 10-month-old Caucasian female infant...
  52. pmc Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects
    Ali 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...
  53. ncbi Associated malformations in cases with congenital diaphragmatic hernia
    C 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); ..
  54. ncbi 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...
  55. ncbi A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound
    Mairead 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...
  56. ncbi Pierre Robin sequence associated with first trimester fetal tamoxifen exposure
    Joel 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...
  57. ncbi Effect of mandibular distraction osteogenesis on developing molars
    M 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...
  58. ncbi 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...
  59. ncbi Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement
    P 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...
  60. ncbi Preoperative evaluation of limbal dermoids using high-resolution biomicroscopy
    J 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...
  61. ncbi Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction
    Arnold 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...
  62. ncbi Case report: intracranial placement of a nasotracheal tube in a patient with Goldenhar syndrome associated with cribriform plate agenesis
    Frederick 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)...
  63. ncbi Craniofacial, skeletal, and cardiac defects associated with altered embryonic murine Zic3 expression following targeted insertion of a PGK-NEO cassette
    Lirong 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 ..
  64. ncbi 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...
  65. ncbi Congenital eyelid colobomas in 51 patients
    Ashok 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...
  66. ncbi Non-syndromic supernumerary caruncles causing ocular irritation after cataract surgery: a critical review of caruncular dysgeneses
    Frederick 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...
  67. ncbi Ophthalmological findings in children born after intracytoplasmic sperm injection
    Margareta 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...
  68. pmc Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
    J 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.
  69. ncbi Accessory tragus: report of two cases and review of the literature
    T 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)...
  70. ncbi Familial occurrence of isolated accessory tragi
    G Tadini
    1st Department of Dermatology and Pediatric Dermatology, University of Milan, Italy
    Pediatr Dermatol 10:26-8. 1993
    Three sibs were affected by numerous accessory tragi. On clinical examination, no other associated developmental defects, such as the Goldenhar syndrome, were detected.
  71. ncbi Prevalence of Oculo-auriculo-vertebral Spectrum in Dermolipoma
    Jwu 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...
  72. ncbi First description of unilateral lung agenesis and anomalous pulmonary venous connection in a newborn with Goldenhar syndrome
    Markus Fischer
    Department of Pediatric Cardiology, Children s University Hospital, Heidelberg, Germany
    Cardiol Young 22:344-5. 2012
    We present a unique case of unilateral lung agenesis and anomalous pulmonary venous return in a newborn with Goldenhar syndrome.
  73. ncbi Airway management for rigid bronchoscopy via a freshly performed tracheostomy in a child with Goldenhar syndrome
    Zulfiqar Ahmed
    Anesthesia Associates of Ann Arbor Oakwood Hospital, Dearborn, MI 48124, USA
    J Clin Anesth 24:234-7. 2012
    A 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...
  74. ncbi 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...
  75. ncbi Pseudotumor cerebri in a patient with Goldenhar's and Duane's syndromes
    Oliver 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...
  76. ncbi Unilateral sclerocornea and tracheal stenosis: unusual findings in a patient with Goldenhar anomaly
    Larissa 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...
  77. ncbi 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
  78. ncbi Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996-2002
    Tasneem 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...
  79. ncbi Characterizing the oculoauriculofrontonasal syndrome
    Michael T Gabbett
    Genetic Health Queensland, Royal Children s Hospital, University of Queensland, Brisbane, Queensland, Australia
    Clin Dysmorphol 17:79-85. 2008
    ....
  80. ncbi Marriage of hard and soft tissues of the face revisited: when distraction meets microsurgery
    Jason 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...
  81. ncbi Temporal bone changes in patients with Goldenhar syndrome with special emphasis on inner ear abnormalities
    Florian 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. 2014
    b>Goldenhar syndrome is a developmental disorder presenting with orofacial and vertebral anomalies, which are also accompanied by abnormalities in other organs...
  82. ncbi Preterm diagnosis of choristoma and choroidal coloboma in Goldenhar's syndrome
    Martina 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...
  83. ncbi Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum
    Caroline 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...
  84. ncbi Restoration of facial symmetry in hemifacial microsomia with mandibular outer cortex bone grafting combined with distraction osteogenesis
    Lai 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...
  85. ncbi The use of TMJ Concepts prostheses to reconstruct patients with major temporomandibular joint and mandibular defects
    A 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...
  86. doi Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye
    T Ghi
    Prenat Diagn 28:362-3. 2008
  87. ncbi Goldenhar's syndrome: congenital hearing deficit of conductive or sensorineural origin? Temporal bone histopathologic study
    A W Scholtz
    Department of Otolaryngology, University of Innsbruck, Innsbruck, Austria
    Otol Neurotol 22:501-5. 2001
    ....
  88. ncbi Tracheal intubation using suspension laryngoscopy in an infant with Goldenhar's syndrome
    P 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...
  89. ncbi Oculoauriculovertebral spectrum in an infant of diabetic mother
    Long 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...
  90. ncbi Nuchal translucency in multiple pregnancies
    G 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...
  91. pmc Cervical spine instability in children with Goldenhar's syndrome
    David 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...
  92. ncbi Bone-anchored hearing aid quality of life assessed by Glasgow Benefit Inventory
    P 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...
  93. ncbi Vertebral anomalies associated with Goldenhar syndrome
    Heather C Yun
    Department of Internal Medicine, Wilford Hall Medical Center, Lackland Air Force Base, Texas, USA
    J Clin Rheumatol 11:283-4. 2005
  94. ncbi Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum
    Sven 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...
  95. ncbi Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach
    Raymond 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)...
  96. ncbi 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...
  97. ncbi A novel association in a family with oculo-auriculo-vertebral spectrum and x-linked ichthyosis
    M R Rivera-Vega
    Pediatr Dermatol 20:182-4. 2003
  98. ncbi Common craniofacial anomalies: the facial dysostoses
    Jeremy 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...
  99. ncbi Goldenhar's syndrome--case report
    Antonio 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..
  100. ncbi 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...
  101. ncbi Dental development in hemifacial microsomia
    E 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...

Research Grants3

  1. Heritability of Oculo-Auriculo-Vertebral Spectrum
    Richard 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...
  2. LOW SET EARS--A DOMINANT BRANCHIAL ARCH DISORDER IN MICE
    ERIC 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 ..
  3. 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. ..