Autosomal dominant inherited oculo-auriculo-vertebral spectrum: report of one family
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Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi [Journal]. Zhonghua Minguo Xiao Er Ke Yi Xue Hui
|January 1, 1993
Abstract:
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.