Oculoauriculovertebral dysplasia1
References (57)
Mandibulo-facial dysostosis associated with dermolipoma of the conjunctiva
Am. J. Ophth.
(1954)A child showing multiple congenital abnormalities
Proc. Roy. Soc. Med.
(1933)Ein Fall von epibulbarem Dermolipom mit Missbildungen einer Gesichtshälfte. Diskordantes Vorkommen bei einem eineiigen Zwillingspaar
Ophthalmologica
(1951)- et al.
Corectopie et kystes dermöides de l'oeill et del'oreille
Bull. de la Soc. d'ophth. de Paris
(1937) Anomalies oculaires congénitales et malformations crânio-faciales associées
Montpellier méd.
(1958)Pediatric x-ray diagnosis
(1961)Dermoid of conjunctiva
M. J. Australia
(1924)- et al.
Unilateral developmental anomalies in sisters
Am. J. Human Genet.
(1949) The role of Intraocular pressure in the development of the cheek eye. I. Control of Eye Size
J. Exper. Zool.
(1956)The role of intraocular pressure in the development of the cheek eye. II. Control of cornea size
A. M. A. Arch. Ophth.
(1957)
Case of congenital malformation of left eyelids with fissure of upper lid and several supernumerary auricles, chiefly in the neighborhood of the left ear
Tr. Ophth. Soc. U. Kingdom
A child with multiple deformities of the eye, eyelids, etc.
Tr. Ophth. Soc. U. Kingdom
Le problème des malformations associées. Les génopathies et embropathies neuro ophthalmiques. Leur incidence au cours des malformations du squelette craniofacial
Thesis
Congenital absence of lung (Agenesis) and other anomalies of tracheobronchial tree
Am. J. Roentgenol.
Pulmonary agenesis and hypoplasia
Arch. Dis. Childhood
Dysostose mandibulofaciale uniläterale avec déformations multiples du squelette (processus paramastoides, synostose des vertèbres, sacralisation, etc.) et tortiocolis clonique
Ophthalmologica
La dysostose mandibulo-faciale dans le cadre des syndromes du ler arc branchial
Schweiz. med. Wchnschr.
Contribution à l'etude de la dysostose mandibulofaciale ou syndrome de Franceschetti (2 observations typiques)
Thesis
Associations malformations de l'oeil et de l'oreille, en particulier le syndrome dermoide épibulbaire-appendices auricularies-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale
J. génét. humaine
Congenital malformation of vertebrae (hemivertebrae) with aplasia of corresponding ribs, associated with a lateral meningomyelocele
Arch. Path.
Über die Formanomalien der Ohrmuschel: Antropologische Studie, Arch. Ohren-
Nasen-u. Kehlkopfh.
Ein Fall von Agenesie der linken Lunge
Beitr. path. Anat.
Multiple anomalies in a child
Tr. Ophth. Soc. U. Kingdom
Über Enkanthoschisis und andere angeborene Anomalien des Auges
Klin. Montsbl. Augenh.
Malformations oculoauriculares (lipodermoide épibulbaire, appendice préauriculaire, colobome de la paupière superiéure) et leurs relations avec la dysostose mandibulo-faciale
Ann. Ocul.
Agenesis of the lung. A review of the literature and report of a case
Am. J. Med. Sc.
Aplasia of the lung with angiocardiographic demonstration of anomalous pulmonary circulation
Am. J. Roentgenol.
Ein seltener Fall von beiderseits symmetrischen Limbusdermoid mit Hasenscharte und Wofsrachen
Ztschr. f. ges. Opth.
Cited by (309)
A decade of clinical research on clinical characteristics, medical treatments, and surgical treatments for individuals with craniofacial microsomia: What have we learned?
2022, Journal of Plastic, Reconstructive and Aesthetic SurgeryGenetics of craniofacial malformations
2021, Seminars in Fetal and Neonatal MedicineCitation Excerpt :The oculo-auriculo-vertebral spectrum (OMIM 164210) is a rare craniofacial developmental disorder characterised by hemifacial microsomia, microtia, ocular, auricular and vertebral anomalies (see Fig. 2). The combination of clinical signs including epibulbar dermoids, auricular appendices, preauricular fistulas and vertebral anomalies was called Goldenhar syndrome until 1963 when Gorlin proposed the term ‘oculo-auriculo-vertebral dysplasia’ - which points out the main features of this syndrome - instead of the eponym [14]. Other terms used for this clinical spectrum are facio-auriculo-vertebral sequence, hemifacial microsomia and first and second branchial arch anomalies [15] - in regard to the supposed embryologic origin of the involved anomalies.
Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency
2024, Molecular Genetics and Genomic Medicine
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This work was partially supported under the Program Grant in Oral Pathology, United States Public Health Service No. 07275207.
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Address, Department of Oral Pathology, University of Minnesota School of Dentistry, Minneapolis 14, Minn.