• A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma
• A case of angle-closure glaucoma, cataract, nanophthalmos and spherophakia in oculo-dento-digital syndrome
• A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance
• Abnormalities of the TMJ and the musculature in the oculo-auriculo-vertebral spectrum (OAV). A CT study
• An ischemic syndrome of the oculumotor nucleus: associated clinical and anatomical variations on a theme
• Associated malformations in patients with limb reduction deficiencies
• Association of aortic arch anomalies and subclavian artery supply disruption with neurofibromatosis
• Atypical oculo-orbital complex choristoma in organoid nevus syndrome
• Bilateral Sturge Weber syndrome- a rare case report
• Branchio-oculo-facial syndrome
• Case of oculo-dento-digital dysplasia
• Case of oculo-dento-digital syndrome
• Case report: airway and concurrent hemodynamic management in a neonate with oculo-auriculo-vertebral (Goldenhar) syndrome, severe cervical scoliosis, interrupted aortic arch, multiple ventricular septal defects, and an unstable cervical spine
• Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
• Cerebro-oculo-muscular syndrome
• Cerebro-oculo-nasal syndrome: another case and review of the literature
• Cervico-oculo-acoustic (Wildervanck) syndrome: clinicoradiological findings
• Cheek fistula from the ectopic salivary gland: a variant of the oculo-auriculo-vertebral spectrum
• Clinical analysis based on 208 patients with microtia (especially reviewed oculo-auriculo-vertebral spectrum, hearing test, CT scan)
• Clinical variability in cerebro-oculo-nasal syndrome: report on two additional cases
• Clinical-embryological and radiological correlations of oculo-auriculo-vertebral spectrum using 3D-CT
• Clinico-radiological description of a case of oculoauriculovertebral dysplasia
• Cochlear implants in children with craniofacial syndromes: assessment and outcomes
• Congenital muscular dystrophy with cerebral and ocular malformations (cerebro-oculo-muscular syndrome)
• Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum
• Craniofacial and airway morphology of individuals with oculoauriculovertebral spectrum
• Crocodile tears and Dandy-Walker syndrome in cervico-oculo-acoustic syndrome
• CT Imaging Categorization and Biomarker Study of Anomalous Tympanic Segment of the Facial Nerves in Patients With Hearing Loss in the Absence of Microtia
• Deep neurological phenotyping in oculo-dento-digital syndrome
• Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
• Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement
• Ectopic external auditory canal and ossicular formation in the oculo-auriculo-vertebral spectrum
• Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia
• EYA4, a novel vertebrate gene related to Drosophila eyes absent
• Fronto-facial advancement and bipartition in Crouzon-Pfeiffer and Apert syndromes: Impact of fronto-facial surgery upon orbital and airway parameters in FGFR2 syndromes
• Hair dysplasia in oculo-dento-digital syndrome. Apropos of a mother-daughter case
• Hemifacial microsomia (oculo-auriculo-vertebral spectrum) in an individual from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Italy)
• Idiopathic partial epilepsy with occipital paroxysms
• Imaging Findings in Syndromes with Temporal Bone Abnormalities
• Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome
• Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome?
• Juvenile open angle glaucoma with microcornea in oculo-dento-digital dysplasia (Meyer-Schwickerath-Weyers syndrome)
• Lesser forms of cleft lip associated with the branchio-oculo-facial syndrome
• Lissencephaly with congenital muscular dystrophy and ocular abnormalities: cerebro-oculo-muscular syndrome
• Meyer-Schwickerath-Weyers syndrome (oculo-dento-digital syndrome)
• Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature
• MODED: microcephaly-oculo-digito-esophageal-duodenal syndrome
• Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl
• Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome
• Neuroimaging experience in pediatric Horner syndrome
• Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome
• Novel <em>GJA1/Cx43</em> Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms
• Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms
• Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome
• Ocular, cerebral and cutaneous malformations: confirmation of an association
• Oculo-auriculo-vertebral spectrum (OAVS) with large cerebral cyst: affinity to holoprosencephaly
• OCULO-AURICULO-VERTEBRAL SPECTRUM ASSOCIATED WITH ABERRANT SUBCLAVIAN ARTERY IN AN INFANT WITH RECURRENT RESPIRATORY DISTRESS
• Oculo-auriculo-vertebral spectrum malformation and contralateral absence of internal carotid artery
• Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement
• Oculo-bulbar myasthenic symptoms as the sole sign of tumour involving or compressing the brain stem
• Oculo-cerebral dysplasia: aplasia of the optic nerve with familial microphthalmos and cryptophthalmus. Clinical and computer tomography study
• Oculo-cerebro-cutaneous syndrome: description of a new case
• Oculo-dental-digital dysplasia: report of a case with spastic paraplegia
• Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations
• Oculo-dento-digital dysplasia (OMIM *164200). Full manifestation of the syndrome in a 9.5 year-old girl and type III syndactyly in the father
• Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging
• Oculo-dento-digital syndrome
• Oculo-dento-digital syndrome (Gorlin's syndrome): clinical and genetical report of a new family
• Oculo-dento-digital syndrome. (Oculo-dento-digital dysplasia)
• Oculo-ectodermal syndrome: is arachnoid cyst a common finding?
• Oculo-oto-vertebro-digital syndrome. Case report
• Oculocephalomotor disorders and bilateral thalamo-subthalamic infarction (author's transl)
• Oculodentodigital dysplasia
• Older paternal age and fresh gene mutation: data on additional disorders
• Optic nerve hypoplasia and the syndrome of nevus sebaceous of Jadassohn. A new association
• Paralysis of cranial nerves as a form of presentation of dissection of the internal carotid artery
• Pediatric Oculo-orbital Tumor Characteristics, Imaging and Histopathology Agreement in a Tertiary Level Teaching Hospital, Ethiopia
• Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia
• Prenatal diagnosis of a case probably with Oral-Facial-Digital Syndrome--Gabrielli type
• Proposed clinical approach and imaging studies in families with oculo-auriculo-vertebral spectrum to assess variable expressivity
• Retinal and central nervous system abnormalities: syndromes which resemble retrolental fibroplasia
• Role of 3D-CT for orthodontic and ENT evaluation in Goldenhar syndrome
• Syndrome of oculo-dento-digital dysplasia
• Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management
• The Hermansky-Pudlak syndrome
• The oculo-dento-digital dysplasia syndrome
• The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family
• The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance
• Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum
• Two neighboring microdeletions of 5q13.2 in a child with oculo-auriculo-vertebral spectrum
• Two new cases of the oculo-dento-digital syndrome (author's transl)
• Two new cases of the oculo-dento-digital syndrome (author's transl)
• Unusual case of combined oculo-facial-digital syndrome
• Unusual case of ocular and digital changes classifiable as oculodentodigital dysplasia
• Walker-Warburg syndrome: cerebro-ocular dysgenesis and congenital muscular dystrophy
• Walker-Warburg syndrome. Case report and literature review
• Wildervanck or cervico-oculo-acoustic syndrome and MRI findings
• Wildervanck's syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery
• Wildervanck's syndrome--unilateral Mondini dysplasia identified by computed tomography
• X-linked dominant inherited diseases with lethality in hemizygous males