Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (151) 151
index medicus (146) 146
oculoauriculovertebral spectrum (112) 112
female (110) 110
male (95) 95
hemifacial microsomia (83) 83
goldenhar syndrome (79) 79
genetics & heredity (73) 73
infant (62) 62
oculoauriculovertebral dysplasia (57) 57
child (54) 54
child, preschool (49) 49
adult (43) 43
infant, newborn (42) 42
goldenhar syndrome - genetics (41) 41
goldenhar syndrome - diagnosis (38) 38
auriculo-vertebral spectrum (37) 37
surgery (36) 36
anomalies (34) 34
adolescent (33) 33
dysplasia (31) 31
phenotype (30) 30
goldenhar syndrome - complications (29) 29
pregnancy (29) 29
dentistry (27) 27
goldenhar syndrome - pathology (26) 26
goldenhar-syndrome (26) 26
pediatrics (25) 25
dentistry, oral surgery & medicine (24) 24
microtia (24) 24
abnormalities (23) 23
complex (19) 19
ear - abnormalities (19) 19
ear, external - abnormalities (18) 18
defects (17) 17
facial asymmetry (17) 17
goldenhar syndrome - diagnostic imaging (17) 17
malformations (17) 17
abnormalities, multiple - genetics (16) 16
abnormalities, multiple - pathology (16) 16
goldenhar (16) 16
manifestations (16) 16
radiography (16) 16
spine - abnormalities (16) 16
syndrome (16) 16
classification (15) 15
deletion (15) 15
oculo-auriculo-vertebral spectrum (15) 15
spectrum (15) 15
abnormalities, multiple - diagnosis (14) 14
birth defects (14) 14
children (14) 14
diagnosis, differential (14) 14
otorhinolaryngology (14) 14
retrospective studies (14) 14
genetic disorders (13) 13
monozygotic twins (13) 13
pedigree (13) 13
prevalence (13) 13
craniofacial microsomia (12) 12
karyotyping (12) 12
mandible - abnormalities (12) 12
mutation (12) 12
sequence (12) 12
tomography, x-ray computed (12) 12
young adult (12) 12
anotia (11) 11
oavs (11) 11
diagnosis (10) 10
family (10) 10
middle aged (10) 10
ophthalmology (10) 10
pathogenesis (10) 10
array-cgh (9) 9
epidemiology (9) 9
facial asymmetry - genetics (9) 9
features (9) 9
goldenhar-gorlin syndrome (9) 9
in situ hybridization, fluorescence (9) 9
malformation (9) 9
of-the-literature (9) 9
chromosome deletion (8) 8
clinical neurology (8) 8
gene (8) 8
goldenhar syndrome - epidemiology (8) 8
goldenhar syndrome - physiopathology (8) 8
oculoauriculovertebral syndrome (8) 8
oculo‐auriculo‐vertebral spectrum (8) 8
analysis (7) 7
chromosome aberrations (7) 7
etiology (7) 7
facial asymmetry - pathology (7) 7
genetics (7) 7
goldenhar syndrome - etiology (7) 7
medicine, research & experimental (7) 7
mesodermal dysplasia spectrum (7) 7
oculoauriculovertebral (7) 7
prenatal diagnosis (7) 7
risk factors (7) 7
studies (7) 7
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Clinical and cytogenomic findings in OAV spectrum
by Bragagnolo, Silvia and Colovati, Mileny E. S and Souza, Malu Z and Dantas, Anelise G and Soares, Maria F and Melaragno, Maria I and Perez, Ana B
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2018, Volume 176, Issue 3, pp. 638 - 648
The oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the development of the first and second pharyngeal arches during the... 
craniofacial microsomia | Goldenhar Syndrome | hemifacial microsomia | oculoauriculovertebral syndrome | ABNORMALITIES | AURICULO-VERTEBRAL SPECTRUM | CLASSIFICATION | DELETION | OCULOAURICULOVERTEBRAL SPECTRUM | GENE | MICROTIA | MUTATION | GENETICS & HEREDITY | PATIENT | Goldenhar Syndrome - epidemiology | Prevalence | Genetic Association Studies | Humans | Middle Aged | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | DNA Copy Number Variations | Young Adult | Phenotype | Goldenhar Syndrome - diagnosis | Adolescent | Chromosome Aberrations | Adult | Female | Cytogenetic Analysis | Child | Infant, Newborn | Medicine, Experimental | Medical research | Hypoplasia | Phenotypes | Mandible | Copy number | Heredity | Environmental factors | Chromosome 4 | Pharynx | Embryogenesis | Asymmetry | Etiology | Neck | Microtia | Polygenic inheritance | Appendages | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Anomalous Extratemporal Facial Nerve in Oculoauriculovertebral Spectrum
by Head, Linden K and Xuan, Lisa and Boyd, Kirsty U and Peters, Daniel A
The Cleft Palate-Craniofacial Journal, ISSN 1055-6656, 5/2018, Volume 55, Issue 5, pp. 769 - 772
Facial nerve dysfunction is common in oculoauriculovertebral spectrum (OAVS). However, the course of the nerve has rarely been described. A 23-year-old woman... 
Oculoauriculovertebral spectrum | Facial nerve | Microtia | Hemifacial microsomia | microtia | SURGERY | oculoauriculovertebral spectrum | SURGICAL LANDMARKS | 1ST | hemifacial microsomia | facial nerve | DENTISTRY, ORAL SURGERY & MEDICINE | AURICULO-VERTEBRAL SPECTRUM | Studies | Nervous system | Face | Patients | Medical procedures | Surgery
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication
by Ballesta‐Martínez, Maria Juliana and López‐González, Vanesa and Dulcet, Lluis Armengol and Rodríguez‐Santiago, Benjamín and Garcia‐Miñaúr, Sixto and Guillen‐Navarro, Encarna
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2013, Volume 161, Issue 8, pp. 2030 - 2035
Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is characterized by anomalies derived from an abnormal development of the first and second branchial... 
oculoauriculovertebral spectrum | 14q23.1 duplication | Goldenhar syndrome | OTX | hemifacial microsomia | Oculoauriculovertebral spectrum | OTX2 | Hemifacial microsomia | DEFECTS | 14q23 | GOLDENHAR-SYNDROME | AURICULO-VERTEBRAL SPECTRUM | FEATURES | DELETION | 1 duplication | ARRAY-CGH | GENETICS & HEREDITY | OF-THE-LITERATURE | CONDYLAR SYNDROME | Chromosome Duplication | Humans | Goldenhar Syndrome - genetics | In Situ Hybridization, Fluorescence | Phenotype | Comparative Genomic Hybridization | Genes, Dominant | Goldenhar Syndrome - diagnosis | Otx Transcription Factors - genetics | Pedigree | Adult | Female | Chromosomes, Human, Pair 14 - genetics | Index Medicus | Central nervous system
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Cranial nerve abnormalities in oculo-auriculo-vertebral spectrum
by Manara, R and Brotto, D and Ghiselli, S and Mardari, R and Toldo, I and Schifano, G and Cantone, E and Bovo, R and Martini, A
American Journal of Neuroradiology, ISSN 0195-6108, 07/2015, Volume 36, Issue 7, pp. 1375 - 1380
BACKGROUND AND PURPOSE: Cranial nerve abnormalities might be observed in hemifacial microsomia and microtia (oculo-auriculo-vertebral spectrum), but the rate,... 
GOLDENHAR-GORLIN SYNDROME | COCHLEAR IMPLANTATION | APLASIA | OCULOAURICULOVERTEBRAL DYSPLASIA | HEMIFACIAL MICROSOMIA | ASSOCIATION | NEUROIMAGING | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | DEFICIENCY | CLINICAL NEUROLOGY | CHILDREN | Goldenhar Syndrome - pathology | Humans | Child, Preschool | Infant | Male | Tomography, X-Ray Computed | Cranial Nerves - abnormalities | Young Adult | Magnetic Resonance Imaging | Phenotype | Adolescent | Adult | Female | Child | Infant, Newborn | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia
by Cohen, Noah and Cohen, Erica and Gaiero, Alberto and Zecca, Silvia and Fichera, Graziella and Baldi, Federica and Giordanetto, Joseph Felix and Mercier, Jacques Marie and Cohen, Amnon
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1208 - 1218
Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and... 
microtia | oculoauriculovertebral spectrum | anotia | Goldenhar | hemifacial microsomia | mandibular hypoplasia | COMPLEX | OMENS-PLUS | ANOMALIES | ABNORMALITIES | AURICULO-VERTEBRAL SPECTRUM | CLEFT-LIP | CLASSIFICATION | MONOZYGOTIC TWINS | FAMILY | GENETICS & HEREDITY | Cleft Palate - diagnosis | Maxillofacial Abnormalities - genetics | Cleft Lip - diagnosis | Humans | Middle Aged | Facial Asymmetry - genetics | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | Cleft Palate - genetics | Young Adult | Goldenhar Syndrome - physiopathology | Goldenhar Syndrome - diagnosis | Female | Child | Abnormalities, Multiple - genetics | Mandible - abnormalities | Maxillofacial Abnormalities - physiopathology | Facial Asymmetry - physiopathology | Cleft Palate - physiopathology | Maxillofacial Abnormalities - diagnosis | Ear, External - abnormalities | Cleft Lip - genetics | Cleft Lip - physiopathology | Abnormalities, Multiple - diagnosis | Facial Asymmetry - diagnosis | Adolescent | Ears & hearing | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: A registry-based study in Europe
by Barisic, Ingeborg and Odak, Ljubica and Loane, Maria and Garne, Ester and Wellesley, Diana and Calzolari, Elisa and Dolk, Helen and Addor, Marie-Claude and Arriola, Larraitz and Bergman, Jorieke and Bianca, Sebastiano and Doray, Berenice and Khoshnood, Babak and Klungsoyr, Kari and McDonnell, Bob and Pierini, Anna and Rankin, Judith and Rissmann, Anke and Rounding, Catherine and Queisser-Luft, Annette and Scarano, Gioacchino and Tucker, David
European Journal of Human Genetics, ISSN 1018-4813, 08/2014, Volume 22, Issue 8, pp. 1026 - 1033
Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids... 
epidemiology | congenital anomalies | oculo-auriculo-vertebral spectrum | Europe | FERTILIZATION | GOLDENHAR-SYNDROME | ABNORMALITIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | DYSPLASIA | CLASSIFICATION | HEMIFACIAL MICROSOMIA | OAVS | DOMINANT OCULOAURICULOVERTEBRAL SPECTRUM | OCULOAURICULOFRONTONASAL SYNDROME | GENETICS & HEREDITY | MANIFESTATIONS | Abnormalities, Multiple - etiology | Prevalence | Developmental Disabilities - etiology | Humans | Prenatal Diagnosis | Risk Factors | Europe - epidemiology | Male | Developmental Disabilities - epidemiology | Pregnancy | Young Adult | Phenotype | Abnormalities, Multiple - diagnosis | Chromosome Aberrations | Abnormalities, Multiple - epidemiology | Adult | Female | Registries | Developmental Disabilities - diagnosis | Population Surveillance | In vitro fertilization | Neonates | Congenital defects | Genes | Stenosis | Population studies | Infants | Genomes | Birth | Epidemiology | Risk factors | Defects | Reproduction | Ear canal | Genetics | Chromosomes | Ultrasound | Public health | Vertebrae | Congenital diseases | Fetuses | Diabetes mellitus | Patients | Prenatal diagnosis | Ear | Epigenetics | Diabetes | Microtia | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Oculoauriculovertebral spectrum with a full range of severe clinical manifestations – Case report
by Gawrych, Elżbieta and Janiszewska-Olszowska, Joanna and Chojnacka, Hanna
Journal of Cranio-Maxillo-Facial Surgery, ISSN 1010-5182, 2011, Volume 42, Issue 8, pp. 2064 - 2068
Abstract Oculoauriculovertebral spectrum (OAVS) is a rare congenital malformation consisting of epibulbar dermoids, lid colobomas, auricular deformities,... 
Surgery | Goldenhar–Gorlin syndrome | Oculoauriculovertebral dysplasia | Mandibular asymmetry | Goldenhar-Gorlin syndrome | SURGERY | DIAGNOSIS | GOLDENHAR-SYNDROME | DENTISTRY, ORAL SURGERY & MEDICINE | DYSPLASIA | HEMIFACIAL MICROSOMIA | OF-THE-LITERATURE | Facial Asymmetry - pathology | Mandible - abnormalities | Nose - abnormalities | Follow-Up Studies | Humans | Eye Neoplasms - pathology | Male | Psychomotor Performance - physiology | Ribs - abnormalities | Dermoid Cyst - pathology | Tracheal Stenosis - pathology | Coloboma - pathology | Thoracic Vertebrae - abnormalities | Cleft Lip - pathology | Goldenhar Syndrome - diagnosis | Cleft Palate - pathology | Fatal Outcome | Infant, Newborn | Medical colleges | Birth defects | Genetic disorders | Index Medicus | Dentistry
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Prevalence of Oculo-auriculo-vertebral Spectrum in Dermolipoma
by Khong, Jwu Jin, FRANZCO, MBBS(Hons) and Hardy, Thomas G., FRANZCO, MBBS and McNab, Alan A., FRANZCO, MBBS
Ophthalmology, ISSN 0161-6420, 2013, Volume 120, Issue 8, pp. 1529 - 1532
Objective To describe the observed frequency of oculo-auriculo-vertebral spectrum (OAVS) in patients with dermolipoma. Design Retrospective case series.... 
Ophthalmology | PATHOGENESIS | OCULOAURICULOVERTEBRAL SPECTRUM | VARIANTS | GOLDENHAR-SYNDROME | ANOMALIES | DYSPLASIA | OPHTHALMOLOGY | CRANIOFACIAL MALFORMATIONS | BRANCHIAL ARCH SYNDROMES | OAVS | DELETION | Goldenhar Syndrome - epidemiology | Prevalence | Humans | Middle Aged | Orbital Neoplasms - pathology | Child, Preschool | Infant | Male | Lipoma - pathology | Young Adult | Goldenhar Syndrome - diagnosis | Adolescent | Victoria - epidemiology | Adult | Female | Retrospective Studies | Orbital Neoplasms - epidemiology | Child | Lipoma - epidemiology | Prevalence studies (Epidemiology) | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Oculo‐auriculo‐vertebral spectrum: Associated anomalies, functional deficits and possible developmental risk factors
by Strömland, Kerstin and Miller, Marilyn and Sjögreen, Lotta and Johansson, Maria and Joelsson, Britt‐Marie Ekman and Billstedt, Eva and Gillberg, Christopher and Danielsson, Susanna and Jacobsson, Catharina and Andersson‐Norinder, Jan and Granström, Gösta and Institutionen för kliniska vetenskaper, sektionen för hud, plastik och öron and Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering and Institute of Odontology and Sahlgrenska Academy and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa and Institute of Clinical Sciences, Section for the Health of Women and Children and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation and Institutionen för odontologi and Sahlgrenska akademin and Institute of Clinical Sciences, Section for Dermatology, Plastic Surgery and Otorhinolaryngology
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2007, Volume 143A, Issue 12, pp. 1317 - 1325
Swedish patients with the oculo‐auriculo‐vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to... 
in vitro fertilization | Goldenhar syndrome | autism spectrum disorder | embryonic development | oculo‐auriculo‐vertebral (OAV) spectrum | intracytoplasmatic sperm injection (ICSI) | In vitro fertilization | Embryonic development | Intracytoplasmatic sperm injection (ICSI) | Oculo-auriculo-vertebral (OAV) spectrum | Autism spectrum disorder | COMPLEX | FERTILIZATION | HEMIFACIAL MICROSOMIA | AUTISTIC BEHAVIOR | OCULOAURICULOVERTEBRAL SPECTRUM | MALFORMATIONS | oculo-auriculo-vertebral (OAV) spectrum | INFANTS | GENETICS & HEREDITY | DIABETIC MOTHERS | MANIFESTATIONS | Goldenhar Syndrome - pathology | Prospective Studies | Ear - abnormalities | Humans | Risk Factors | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | Feeding and Eating Disorders - pathology | Sensation Disorders - pathology | Neuropsychological Tests | Spine - abnormalities | Speech Disorders - pathology | Cerebrum - abnormalities | Sweden | Eye Abnormalities - pathology | Adolescent | Female | Child | Index Medicus | Pediatrics | Pediatrik | Spine | Heart Defects | Kardiologi | Eating Disorders | Eye Abnormalities | Oftalmologi | Cerebrum | Psykiatri | Genetics | Ophthalmology | Goldenhar Syndrome | Intellectual Disability | Neurologi | Congenital | Abnormalities | Preschool | Sensation Disorders | Speech Disorders | Neurology | Pathology | Cardiac and Cardiovascular Systems | Ear | Psychiatry
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients
by Beleza-Meireles, Ana and Hart, Rachel and Clayton-Smith, Jill and Oliveira, Renata and Reis, Cláudia Falcão and Venâncio, Margarida and Ramos, Fabiana and Sá, Joaquim and Ramos, Lina and Cunha, Elizabete and Pires, Luís Miguel and Carreira, Isabel Marques and Scholey, Rachel and Wright, Ronnie and Urquhart, Jill E and Briggs, Tracy A and Kerr, Bronwyn and Kingston, Helen and Metcalfe, Kay and Donnai, Dian and Newman, William G and Saraiva, Jorge Manuel and Tassabehji, May
European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 58, Issue 9, pp. 455 - 465
Abstract Introduction Oculo-auriculo-vertebral spectrum (OAVS OMIM 164210 ) is a craniofacial developmental disorder affecting the development of the... 
Medical Education | Oculoauriculovertebral spectrum | First and second branchial arch | Goldenhar syndrome | Copy number variation | Preauricular tags | Hemifacial microsomia | CHROMOSOME 22Q11 | MENTAL-RETARDATION | GOLDENHAR-SYNDROME | PHENOTYPIC VARIABILITY | KLINEFELTER-SYNDROME | ARRAY-CGH | GENETICS & HEREDITY | MICRODUPLICATION 22Q11.2 | CAT-EYE | Eye Abnormalities - diagnosis | Ear - abnormalities | Humans | Ear - embryology | Hernia, Diaphragmatic - genetics | Goldenhar Syndrome - genetics | Male | Developmental Disabilities - genetics | Brain - abnormalities | Eye Abnormalities - genetics | Spine - abnormalities | Heart Defects, Congenital - genetics | Comparative Genomic Hybridization | Goldenhar Syndrome - diagnosis | Abnormalities, Multiple - diagnosis | Female | Heart Defects, Congenital - diagnosis | Hernia, Diaphragmatic - diagnosis | Abnormalities, Multiple - genetics | Hospitals | Medical genetics | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text Hearing characterization in oculoauriculovertebral spectrum: A prospective study with 10 patients
by Goetze, Thayse Bienert and Sleifer, Pricila and Rosa, Rafael Fabiano Machado and da Silva, Alessandra Pawelec and Graziadio, Carla and Zen, Paulo Ricardo Gazzola
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 309 - 314
Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, is considered a condition associated to failing of embryogenesis involving the first... 
Oculoauriculovertebral spectrum | audiology | Goldenhar syndrome | hearing sciences | language | speech | GOLDENHAR-SYNDROME | GENETICS & HEREDITY | AURICULO-VERTEBRAL SPECTRUM | DYSPLASIA | Hearing Loss - diagnosis | Prospective Studies | Humans | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | Hearing Loss - genetics | Young Adult | Phenotype | Goldenhar Syndrome - diagnosis | Adolescent | Physical Examination | Adult | Female | Child | Hearing Tests | Medicine, Experimental | Medical research | Speech therapists | Speech therapy | Hearing protection | Hearing impairment | Hearing loss | Hearing | Embryogenesis | Etiology | Ear | Auditory system | Ear canal | Speech | Ears & hearing | Children | Microtia | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype
by Colovati, Mileny E.S and Bragagnolo, Silvia and Guilherme, Roberta S and Dantas, Anelisa G and Soares, Maria F and Kim, Chong A and Perez, Ana B.A and Melaragno, Maria I
Cytogenetic and Genome Research, ISSN 1424-8581, 03/2016, Volume 147, Issue 2-3, pp. 130 - 134
The oculo-auriculo-vertebral spectrum (OAVS) is defined as a group of malformations involving the ears, mouth, mandible, eyes, and cervical spine. Establishing... 
Short Report | Atypical deletion | OAVS | 22q11.2 | Candidate genes | MICRODELETION | COMPLEX | HEMIFACIAL MICROSOMIA | GOLDENHAR SEQUENCE | CHILD | CAT-EYE SYNDROME | TRISOMY-22 | CELL BIOLOGY | OCULOAURICULOVERTEBRAL SPECTRUM | ARRAY-CGH | GENETICS & HEREDITY | RHABDOID TUMOR | Abnormalities, Multiple - pathology | Chromosome Deletion | Multiplex Polymerase Chain Reaction - methods | Chromosome Banding | Goldenhar Syndrome - pathology | Oligonucleotide Array Sequence Analysis - methods | Humans | Child, Preschool | Goldenhar Syndrome - genetics | Infant | Male | Chromosomes, Human, Pair 22 - genetics | Phenotype | Polymorphism, Single Nucleotide | Abnormalities, Multiple - genetics | Karyotype | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
13. Full Text An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: Report on two cases
by Vendramini-Pittoli, Siulan and Guion-Almeida, Maria L and Santos, Juliana M and Garcia Júnior, Silvio M and Yoshida, Mauricio M and Richieri-Costa, Antonio and Kokitsu-Nakata, Nancy M
Clinical Dysmorphology, ISSN 0962-8827, 09/2015, Volume 24, Issue 4, pp. 144 - 150
Oculoauriculovertebral spectrum (OAVS, OMIM 164210) is a complex condition characterized by defects in aural, oral, and mandibular development. Other... 
oculoauriculovertebral spectrum | hemifacial microssomia | Goldenhar syndrome | median mandibular cleft | Tessier 30 | atypical facial cleft | AUTOSOMAL RECESSIVE SYNDROME | MENTAL-RETARDATION | ANOMALIES | LOWER LIP | HEMIFACIAL MICROSOMIA | MEDIAN-CLEFT | MANDIBULOFACIAL DYSOSTOSIS | MANDIBULAR CLEFT | GENETICS & HEREDITY | 1ST BRANCHIAL ARCH | TISSUE CORRECTION | Cleft Lip - diagnosis | Goldenhar Syndrome - pathology | Tomography Scanners, X-Ray Computed | Cleft Lip - pathology | Goldenhar Syndrome - diagnosis | Humans | Infant | Male | Facial Bones | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights