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 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
  6. 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
  7. 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
  8. 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
  9. doi 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
  10. ncbi Goldenhar syndrome associated with growth hormone deficiency
    A M Yusufoğlu
    Ankara Diskapi Children s Hospital, Ankara, Turkey
    Genet Couns 19:173-6. 2008

Detail Information

Publications156 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 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...
  6. 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...
  7. 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)...
  8. 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
    ....
  9. doi 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...
  10. 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...
  11. 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...
  12. 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.
  13. 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
  14. 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...
  15. 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...
  16. 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...
  17. 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.
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. 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
    ....
  23. 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...
  24. doi 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...
  25. 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 ..
  26. doi Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye
    T Ghi
    Prenat Diagn 28:362-3. 2008
  27. 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...
  28. 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...
  29. ncbi [External ear duplication, a rare branchial arch abnormality]
    V Baschek
    Laryngorhinootologie 85:861. 2006
  30. doi 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
    ....
  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 [Multiple accessory tragi and Goldenhar's syndrome]
    K Khadir
    Arch Pediatr 13:1557-8. 2006
  33. 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...
  34. 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...
  35. 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...
  36. 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...
  37. 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 ..
  38. 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..
  39. 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
  40. 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...
  41. 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...
  42. 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...
  43. 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)...
  44. ncbi [Goldenhar syndrome and arachnoid cyst]
    M J Hajje
    Arch Pediatr 10:353-4. 2003
  45. 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 ..
  46. 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
  47. 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...
  48. 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...
  49. 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...
  50. 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); ..
  51. 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...
  52. 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...
  53. 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...
  54. 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...
  55. 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...
  56. 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...
  57. 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...
  58. 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...
  59. 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...
  60. 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...
  61. 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 ..
  62. 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...
  63. doi 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)...
  64. doi 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...
  65. doi 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...
  66. 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...
  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. 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)...
  69. 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.
  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. pmc Goldenhar syndrome: a report of 3 cases
    Sudarshan P Gaurkar
    Department of Dermatology, B J Medical College and Civil Hospital, Ahmedabad, Gujarat, India
    Indian J Dermatol 58:244. 2013
    We report here 3 cases with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia), and facial microsomia...
  72. ncbi Three-dimensional spiral CT of craniofacial malformations in children
    S Binaghi
    Department of Radiology, University Hospital of Lausanne, CHUV, 1011 Lausanne, Switzerland
    Pediatr Radiol 30:856-60. 2000
    ..To assess the value of three-dimensional CT (3D CT) in the diagnosis and management of suspected paediatric craniofacial malformations...
  73. ncbi Early treatment of severe mandibular hypoplasia with distraction mesenchymogenesis and bilateral free fibula flaps
    E J Stelnicki
    Cleveland Clinic Florida, Department of Plastic Surgery, Fort Lauderdale 33308, USA
    J Craniofac Surg 12:337-48. 2001
    ..Airway diameter increased to 10 mm, and the patient is able to tolerate intermittent tracheostomy plugging. This innovative combination of techniques allows early intervention, limits graft resorption, and improves airway control...
  74. ncbi Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum
    P Martinelli
    Prenatal Diagnosis Unit, Department of Gynecology and Obstetrics, University Federico II of Naples, Naples, Italy
    Ultrasound Obstet Gynecol 24:199-201. 2004
    Oculoauriculovertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies...
  75. ncbi Odontostomatological aspects in patients with Goldenhar syndrome: a series of 9 patients
    L Cingano
    Section of Dentistry, Genoa Univerity, Genoa, Italy
    Minerva Stomatol 62:375-85. 2013
    The authors observed and followed nine patients with Goldenhar syndrome to identify the variability and severity malformations mainly affecting the orofacial district, but also other systems...
  76. doi Goldenhar syndrome and intubation with the fiberoptic broncoscope
    Onur Ozlu
    Paediatr Anaesth 18:793-4. 2008
  77. 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 ..
  78. ncbi Caruncle abnormalities in the oculo-auriculo-vertebral spectrum
    Navdeep Nijhawan
    Department of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet 113:320-5. 2002
    b>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...
  79. ncbi Airway management using the ProSeal laryngeal mask airway in a child with Goldenhar syndrome
    M S Aydogan
    Department of Anaesthesiology and Reanimation, Medical Faculty, Inonu University, Malatya, Turkey
    Eur Rev Med Pharmacol Sci 16:559-61. 2012
    Children with congenital anomalies such as Goldenhar syndrome affecting the airway can be a problem for the anaesthesiologist...
  80. 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...
  81. pmc Case report: Goldenhar syndrome following donor oocyte IVF
    Victoria Gittins
    Shropshire and Mid Wales Fertility Centre, Shrewsbury and Telford Hospitals NHS Trust, UK
    J Assist Reprod Genet 27:561-3. 2010
    To 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.
  82. doi Changes of mandibular ramal height, during growth in unilateral hemifacial microsomia patients and unaffected controls
    E M Ongkosuwito
    Department of Orthodontics, Erasmus MC Sophia, University Medical Center, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands
    J Craniomaxillofac Surg 41:92-7. 2013
    ..These growth curves may aid the timing and determination of the combined surgical orthodontic treatment plan for HFM patients...
  83. doi 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...
  84. ncbi Prenatal diagnosis of a case probably with Oral-Facial-Digital Syndrome--Gabrielli type
    M A Guven
    Kahramanmaras Sutcuimam University, Faculty of Medicine, Obstetrics and Gynecology, Kahramanmaras, Turkey
    Genet Couns 20:167-72. 2009
    ..On the other hand, it is hard to differentiate this clinical picture from Goldenhar syndrome (Oculo-auriculo-vertebral spectrum), and oculo-auriculo-fronto-nasal syndrome because of many overlapping ..
  85. ncbi Goldenhar syndrome: a case report and literature review
    C O Bekibele
    Department of Ophthalmology, College of Medicine, University of Ibadan, University College Hospital, Ibadan
    West Afr J Med 24:77-80. 2005
    The case of a 24-year-old female Nigerian with features of Goldenhar syndrome is presented and the challenges of management especially with reference to reconstructive facial surgery and general anaesthesia are discussed.
  86. pmc Hemifacial microsomia: from gestation to childhood
    Martha M Werler
    Slone Epidemiology Center, Boston University, Boston, Massachusetts 02215, USA
    J Craniofac Surg 20:664-9. 2009
    ..When data on the full study sample are available, further analyses will determine whether the preliminary findings remain and if they vary by HFM phenotype, parenting style, or indicators of social risk...
  87. doi 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...
  88. ncbi Goldenhar syndrome
    M M Hossain
    Department of Ophthalmology, Mymensingh Medical College, Mymensingh, Bangladesh
    Mymensingh Med J 21:541-2. 2012
    ..X ray of mandible and maxilla shows hypoplasia of maxilla and mandible. Clinical examination and investigations confirmed the diagnosis as Goldenhar syndrome.
  89. doi An unusual association of Goldenhar syndrome
    Göktuğ Seymenoğlu
    Department of Ophthalmology, Faculty of Medicine, Celal Bayar University, Manisa, Turkey
    Int Ophthalmol 33:91-4. 2013
    b>Goldenhar syndrome is well known for its classical triad of epibulbar dermoids or lipodermoids, auricular appendages and pretragal fistulas...
  90. ncbi [Diabetic mother's newborn with Goldenhar syndrome and cerebral malformations. Case report]
    Hugo Kerckoff Villanueva
    Hospital Materno Infantil de León, Guanajuato
    Ginecol Obstet Mex 76:691-4. 2008
    b>Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, is a rare illness with unknown etiology...
  91. ncbi Anaesthetic approach in a case of Goldenhar's syndrome
    C Kaymak
    Eur J Anaesthesiol 19:836-8. 2002
  92. ncbi Facio-auriculo-vertebral sequence in association with congenital hypoparathyroidism
    Mandar Bhausaheb Patil
    Department of Pediatrics, Dr DY Patil Medical College, Kolhapur, Maharashtra, India
    Indian Pediatr 49:670-2. 2012
    ..Association of cardiac, CNS, lungs, kidneys and limb defects are described. We report a neonatal case with FAVS in association with congenital hypoparathyroidism...
  93. ncbi The influence of craniofacial growth in a case of transverse facial cleft
    Antje Kirbschus
    Department of Orthodontics, Preventive and Pediatric Dentistry, Center of Oral Health, University of Greifswald, Greifswald, Germany
    J Orofac Orthop 67:215-24. 2006
    ....
  94. ncbi Goldenhar's syndrome associated with occipital meningoencephalocele--case report
    Daisuke 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...
  95. ncbi [Goldenhar's syndrome--case report]
    Ewa Poppe
    Oddział Okulistyczny Szpitala Wojewódzkiego w Łomzy
    Klin Oczna 114:38-40. 2012
    ..The aim of the article is to present the case of anophthalmia in the new-born child with phenotype of Goldenhar's syndrome...
  96. doi Lipodermoid in a patient with Emanuel syndrome
    Tanya S Glaser
    Department of Ophthalmology, University of California San Francisco, San Francisco, California, USA
    J AAPOS 17:211-3. 2013
    We report an 8-month-old boy with Emanuel syndrome who also had the clinical features of Goldenhar syndrome. At birth, he was observed to have bilateral microtia with multiple auricular pits, retrognathia, and a unilateral lipodermoid...
  97. ncbi New closed skin bone-anchored implant: preliminary results in 6 children with ear atresia
    Francoise Denoyelle
    Otolaryngology Head and Neck Surgery Department, Armand Trousseau Children Hospital, 26 avenue du Dr Arnold Netter, Paris, France
    Otol Neurotol 34:275-81. 2013
    ..To report preliminary results of a new closed-skin, transcutaneous bone conduction device (BCD) in 6 children with high-grade ear atresia...
  98. ncbi Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography
    I Güzelmansur
    Department of Radiology, Antakya Mozaik Maternity Hospital, Antakya, Turkey
    Genet Couns 24:319-25. 2013
    Oculoauriculo-vertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, and mandible) and spinal anomalies...
  99. doi 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.
  100. ncbi 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...
  101. ncbi Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?
    O Gabrielli
    Department of Pediatrics, University of Ancona, Italy
    Minerva Pediatr 45:459-62. 1993
    ..The patient, a 4-year-old female shows facial asymmetry, preauricular tags, anterior displacement of the anus and rib anomalies. Some of these clinical signs are present both in the Goldenhar syndrome and in the Townes-Brocks syndrome.

Research Grants11

  1. MSM - Multiscale Studies of Segmentation in Vertebrate *
    JAMES GLAZIER; Fiscal Year: 2006
    ..spondylocostal dysostosis.Jarcho-Levin syndrome, congenital scoliosis and kyphosis, Goldenhar syndrome, and spina bifida, among others disorders...
  2. 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...
  3. MSM - Multiscale Studies of Segmentation in Vertebrate *
    JAMES GLAZIER; Fiscal Year: 2005
    ..spondylocostal dysostosis.Jarcho-Levin syndrome, congenital scoliosis and kyphosis, Goldenhar syndrome, and spina bifida, among others disorders...
  4. Heritability of Oculo-Auriculo-Vertebral Spectrum
    Richard Ward; Fiscal Year: 2001
    ..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...
  5. 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...
  6. 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 ..
  7. BURPPE:BU Reproductive, Perinatal, and Pediatric Epidemiology Training Program
    Martha Werler; Fiscal Year: 2007
    ....
  8. Dietary Glycemic Load, Obesity, and Birth Defect Risks
    Martha Werler; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  9. CRANIOFACIAL AND GENETIC VARIATION IN 22Q11.2 DELETION SYNDROME
    Carrie Heike; Fiscal Year: 2007
    ..Demonstration of a relationship between the craniofacial variability and genotype will provide additional insight into the pathogenesis of this genomic disorder and genetic control of the facial features in the general population. ..
  10. CRANIOFACIAL AND GENETIC VARIATION IN 22Q11.2 DELETION SYNDROME
    Carrie Heike; Fiscal Year: 2008
    ..Demonstration of a relationship between the craniofacial variability and genotype will provide additional insight into the pathogenesis of this genomic disorder and genetic control of the facial features in the general population. ..
  11. 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. ..