Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
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.
Morrison
P J
PJ
Regional Medical Genetics Center, Belfast City Hospital, Northern Ireland.
Mulholland
H C
HC
Craig
B G
BG
Nevin
N C
NC
D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006053:Goldenhar Syndrome / Q000473:pathology* / Q000503:physiopathology; D006330:Heart Defects, Congenital / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008297:Male