Autosomal dominant inherited oculo-auriculo-vertebral spectrum: report of one family.
Most cases of oculo-auriculo-vertebral spectrum are sporadic. Here, we report a family in which there are seven affected members spanning three consecutive generations. It supports the pattern of autosomal dominant transmission. It is important to evaluate the first-degree relatives to exclude any facial manifestations, even of minor anomaly, before giving genetic counseling.
Tsai
F J
FJ
Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan.
Tsai
C H
CH
D005799:Genes, Dominant; D006053:Goldenhar Syndrome / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree