Davidson H R
Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.
J Med Genet. 1993 Jun;30(6):503-5. doi: 10.1136/jmg.30.6.503.
A large family is described in which patent ductus arteriosus in association with an unusual facial appearance affected nine family members in three generations. The segregation pattern suggests autosomal dominant inheritance with incomplete penetrance with respect to the PDA. The facial features included a broad, high forehead, flat profile, and short nose with a broad, flattened tip.
本文描述了一个大家庭,其中三代九名家庭成员患有动脉导管未闭,并伴有异常面容。遗传模式表明,动脉导管未闭具有常染色体显性遗传特征,且外显不全。面部特征包括宽阔高耸的额头、扁平的侧面轮廓、短鼻以及宽阔扁平的鼻尖。