Biomaterial Database

Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome). 1992

P J Morrison, and H C Mulholland, and B G Craig, and N C Nevin

Regional Medical Genetics Center, Belfast City Hospital, Northern Ireland.

We describe the phenotypic characteristics of 25 individuals with oculo-auriculo-vertebral spectrum (OAVS) and its variants, seen in Northern Ireland between 1969-1989, with special reference to cardiovascular defects. We report the type and prevalence of cardiovascular findings and also estimate the minimum prevalence rate of OAVS to be 1 in 45,000.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D005260	Female		Females
D006053	Goldenhar Syndrome	Mandibulofacial dysostosis with congenital eyelid dermoids.	Hemifacial Microsomia,Oculoauriculovertebral Syndrome,Craniofacial Microsomia,Facioauriculovertebral Dysplasia,Facioauriculovertebral Sequence,First and Second Branchial Arch Syndrome,First and Second Pharyngeal Arch Syndromes,Goldenhar Disease,Goldenhar Syndrome with Ipsilateral Radial Defect,Goldenhar-Gorlin Syndrome,Hemifacial Microsomia with Radial Defects,Lateral Facial Dysplasia,Microsomia Hemifacial Radial Defects,Moeschler Clarren Syndrome,OAVS with Radial Defect,Oculoauriculovertebral Dysplasia,Oculoauriculovertebral Spectrum,Oculoauriculovertebral Spectrum with Radial Defect,Oral-Mandibular-Auricular Syndrome,Otomandibular Dysostosis,Craniofacial Microsomias,Dysostosis, Otomandibular,Dysplasia, Facioauriculovertebral,Dysplasia, Lateral Facial,Dysplasia, Oculoauriculovertebral,Dysplasias, Facioauriculovertebral,Dysplasias, Lateral Facial,Dysplasias, Oculoauriculovertebral,Facial Dysplasia, Lateral,Facial Dysplasias, Lateral,Facioauriculovertebral Dysplasias,Facioauriculovertebral Sequences,Goldenhar Gorlin Syndrome,Goldenhar-Gorlin Syndromes,Lateral Facial Dysplasias,Microsomia, Craniofacial,Microsomias, Craniofacial,Oculoauriculovertebral Dysplasias,Oculoauriculovertebral Spectrums,Oral Mandibular Auricular Syndrome,Oral-Mandibular-Auricular Syndromes
D006330	Heart Defects, Congenital	Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.	Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities